Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A9
Variant:p.I350T
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SLC12A9

NM_020246.4:p.I350T

Associated Papers

Evidence of a genetic background predisposing to complex regional pain syndrome type 1.

Shaikh SS et al.

Journal of Medical Genetics, 2024

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."