Varaico: Literature-Extracted Genetic Variants

Gene:RFXAP
Variant:p.M137T
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RFXAP

NM_000538.4:p.M137T

Associated Papers

A large single-center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey.

Ünsal H et al.

Scandinavian Journal of Immunology, 2024

From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.

Tise CG et al.

G3 (bethesda, Md.), 2016

27412988 (PubMed )
Supplement: supp_g3.116.032979_TableS5.pdf
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