Nanopublications LDF server

Matches in Nanopublications for { ?s ?p "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }

• NP477970.RAZD9TCUo5fVzIRT-UJUzcVcuQ8iP3a9zFs1HrE0X8PGU130_assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP477970.RAZD9TCUo5fVzIRT-UJUzcVcuQ8iP3a9zFs1HrE0X8PGU130_provenance.
• NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_provenance.
• NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.
• NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_provenance.
• assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• NP852171.RAeXlIVcOatBcBeeShQsJP5Avn5El41qD1tzaIaWT6yr4130_assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852171.RAeXlIVcOatBcBeeShQsJP5Avn5El41qD1tzaIaWT6yr4130_provenance.
• NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_provenance.
• NP820395.RA6TMCxJn4ZBHoX4O6ivCdiJjIauWnXZohl8t8_pdUy4k130_assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP820395.RA6TMCxJn4ZBHoX4O6ivCdiJjIauWnXZohl8t8_pdUy4k130_provenance.
• NP852170.RAweAknbegdV3HMdS2TrBrZ-01m_hXD0UFzirwuXWQjUs130_assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852170.RAweAknbegdV3HMdS2TrBrZ-01m_hXD0UFzirwuXWQjUs130_provenance.