Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.R471H
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BMPR1A

NM_004329.3:p.R471H

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

Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Möhrmann L et al.

Nature Communications, 2022

35918329 (PubMed )
Supplement: 41467_2022_31866_MOESM7_ESM.xlsx › 4.1_germline_variants

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

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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."