All individuals with variants in gene HEXA

8 entries on 1 page. Showing entries 1 - 8.
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00000002 - PubMed: Bell 2011 - - - - - - - - - ? in vitro assay 2 1 Global Variome, with Curator vacancy
00000069 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
00073149 - ATX46 - M - France - - 0 - - SCAR - 1 1 Claire Guissart
00269920 - - - F - - - - 0 - - ? Ataxia (HP:0001251) 2 1 Andreas Laner
00291292 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 39 Mohammed Faruq
00291294 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00295580 - - - F - - - - 0 - - ? Elevated serum creatine phosphokinase (HP:0003236); Abnormal levels of creatine kinase in blood (HP:0040081); Quadriceps muscle weakness (HP:0003731); Proximal muscle weakness in lower limbs (HP:0008994) 1 1 Andreas Laner
00304478 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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