Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.R406H
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BMPR1A

NM_004329.3:p.R406H

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

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Russell BE et al.

Molecular Genetics & Genomic Medicine, 2019

Functional analysis of clinical BARD1 germline variants.

Toh MR et al.

Cold Spring Harbor Molecular Case Studies, 2019

31371347 (PubMed )
Supplement: supp_mcs.a004093_Supplemental_Materials.docx
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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."