Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.S607S
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RNF43

NM_017763.6:p.S607S

Associated Papers

New Target(s) for RNF43 Regulation: Implications for Therapeutic Strategies.

Nag JK et al.

International Journal of Molecular Sciences, 2024

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.

Quintana I et al.

Gut, 2018

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