Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.R120W
Back to variants list

BMPR1A

NM_004329.3:p.R120W

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › BMPR1A

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Schamschula E et al.

Biomolecules, 2022

36291559 (PubMed )
Supplement: biomolecules-12-01350-s001.zip › Figures_and_Tables › Tables_S1-S3.xlsx › Table_S2C
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."