Matches in Nanopublications for { ?s ?p "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP663086.RAD5uYtmlvmlschFQcxoXY4iqAzvhJ2HWPSU6nmR1ixs4130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP663086.RAD5uYtmlvmlschFQcxoXY4iqAzvhJ2HWPSU6nmR1ixs4130_provenance.
- NP15939.RAPnj9HiUhI6y7agd1Iz7BlebBJr4C1FmoZMWLcpvqu4s130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15939.RAPnj9HiUhI6y7agd1Iz7BlebBJr4C1FmoZMWLcpvqu4s130_provenance.
- assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP15422.RAZ-77uCPWsYgRWPBv2da0KsG0tDCX4aknPuDZW5ZIfgI130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15422.RAZ-77uCPWsYgRWPBv2da0KsG0tDCX4aknPuDZW5ZIfgI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.
- NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_provenance.
- NP498236.RALnyxXPWdrLTub5vNquAqy6EZ1i6QPhPnHu778MHi1Ms130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP498236.RALnyxXPWdrLTub5vNquAqy6EZ1i6QPhPnHu778MHi1Ms130_provenance.