Matches in Nanopublications for { ?s ?p "[A review of all published mutations suggests that mutation in the C-terminal coiled coil region or truncation of the tailpiece is associated with haematological-only phenotype, while mutation of the head ATPase domain frequently is associated with nephropathy and/or hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[A review of all published mutations suggests that mutation in the C-terminal coiled coil region or truncation of the tailpiece is associated with haematological-only phenotype, while mutation of the head ATPase domain frequently is associated with nephropathy and/or hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP356485.RAWi2qxp3XK21gadTAHz6m_GP0nzm6u04VvSVqayt_25o130_assertion description "[A review of all published mutations suggests that mutation in the C-terminal coiled coil region or truncation of the tailpiece is associated with haematological-only phenotype, while mutation of the head ATPase domain frequently is associated with nephropathy and/or hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP356485.RAWi2qxp3XK21gadTAHz6m_GP0nzm6u04VvSVqayt_25o130_provenance.
- NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_assertion description "[A review of all published mutations suggests that mutation in the C-terminal coiled coil region or truncation of the tailpiece is associated with haematological-only phenotype, while mutation of the head ATPase domain frequently is associated with nephropathy and/or hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.