Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a fa...
Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family
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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 present a family of two female Alport syndrome patients with a family history of impaired glucose tolerance. Whole exome sequencing identified a novel heterozygous variant of
COL4A5
NM_033380.3: c.2636 C > A (p.S879*) and a rare variant of
GCK
NM_001354800.1: c.1135 G > A (p.A379T) as the causes of Alport syndrome and monogenic diabe...
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Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family
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TN_cdi_doaj_primary_oai_doaj_org_article_c3a5b6b3fd0143cabf5a829288d4b5c0
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c3a5b6b3fd0143cabf5a829288d4b5c0
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ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-023-00233-0
