Matches in Nanopublications for { ?s ?p "[Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP735046.RA7h7eS5TPOwUJYVJF2agQAOXj_T6Gf2CJjbY2acl_bPc130_assertion description "[Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP735046.RA7h7eS5TPOwUJYVJF2agQAOXj_T6Gf2CJjbY2acl_bPc130_provenance.
- NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion description "[Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.
- assertion description "[Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_assertion description "[Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.