Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1B
Variant:p.R214C
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BMPR1B

NM_001203.3:p.R214C

Associated Papers

A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree.

Yang X et al.

American Journal of Medical Genetics. Part A, 2025

KinaseMD: kinase mutations and drug response database.

Hu R et al.

Nucleic Acids Research, 2021

33137204 (PubMed )
Supplement: gkaa945_supplemental_files.zip › Supplementary_Table_S3.xlsx › Sheet1

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

Yıldırım Y et al.

European Journal of Human Genetics : Ejhg, 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."