Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.S189F
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RHBDF2

NM_001005498.4:p.S189F

Associated Papers

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms.

Ellis A et al.

Orphanet Journal of Rare Diseases, 2015

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.

Blaydon DC et al.

American Journal of Human Genetics, 2012

[RHBDF2 mutations in familial palmoplantar keratoderma associated with tylosis oesophageal cancer].

Dereure O

Annales De Dermatologie Et De Venereologie, 0

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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."