Varaico: Literature-Extracted Genetic Variants

Gene:CSMD1
Variant:p.M3015I
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CSMD1

NM_033225.6:p.M3015I

Associated Papers

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.

Webb BD et al.

European Journal of Human Genetics : Ejhg, 2021

33840812 (PubMed )
Supplement: 41431_2021_883_MOESM1_ESM.xlsx › PPM7900HomoHemiRecessive-Geneti
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