Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A2
Variant:p.S79R
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SLC12A2

NM_001046.3:p.S79R

Associated Papers

Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.

Mirshahi UL et al.

Kidney International Reports, 2022

36090499 (PubMed )
Supplement: mmc1.docx

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400
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