Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.Q117R
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BMPR1A

NM_004329.3:p.Q117R

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

Whole genome sequencing in high-grade cervical intraepithelial neoplasia patients from different ethnic groups in China.

Wang J et al.

Medicine, 2023

37960754 (PubMed )
Supplement: medi-102-e35953-s002.xlsx › Suppl_Table2

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations
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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."