Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.R486Q
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BMPR1A

NM_004329.3:p.R486Q

Associated Papers

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S1

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

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test
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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."