Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous
ATP7B
pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) and a known FLNC pathogenic variant. Our results highlight the usefulness of WGS,...
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Full title
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_e35b5985044841eb9779c1f6ef125582
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e35b5985044841eb9779c1f6ef125582
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ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-024-00283-y
