All individuals with variants in gene DDOST

5 entries on 1 page. Showing entries 1 - 5.
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Owner     
00050634 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability 1 1 Johan den Dunnen
00106652 22305527-FamPatII1 PubMed: Jones 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister M - United States Northern European - 0 - - CDG1R untyped; Congenital disorders of glycosylation (CDG) 2 1 Johan den Dunnen
00289676 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00289678 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 14 Mohammed Faruq
00289680 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
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