Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A9
Variant:p.N552K
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SLC12A9

NM_020246.4:p.N552K

Associated Papers

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

Accogli A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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