Varaico: Literature-Extracted Genetic Variants

Gene:RHPN2
Variant:p.S67P
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RHPN2

NM_033103.5:p.S67P

Associated Papers

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0004-TableS4.xlsx › PDAC-001

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.

Hedberg-Oldfors C et al.

European Journal of Human Genetics : Ejhg, 2023

36935417 (PubMed )
Supplement: 41431_2023_1327_MOESM1_ESM.docx

Cylindroma of the breast with CYLD gene mutation: a case report and review of the literature.

Escher-Michlig V et al.

Molecular Biology Reports, 2023

37389703 (PubMed )
Supplement: 11033_2023_8606_MOESM1_ESM.xlsx › allTN.mutect2.target_ft.som_ad_
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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."