Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.D188N
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RHBDF2

NM_024599.5:p.D188N

Associated Papers

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Yamaguchi T et al.

Japanese Journal of Clinical Oncology, 2025

41342546 (PubMed )
Supplement: table_s1_hyaf181.xlsx › Supplemental_Table_1

Tylosis associated with squamous cell carcinoma of the oesophagus (TOC): Report of an African family with a novel RHBDF2 variant.

Mokoena T et al.

Clinical Genetics, 2018

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.

Saarinen S et al.

Familial Cancer, 2012

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