All individuals with variants in gene IKBKAP

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000059 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00294714 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00294715 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294716 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 26 Mohammed Faruq
00294717 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 26 Mohammed Faruq
00300073 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - HSN - 1 1 Johan den Dunnen
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