Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1B
Variant:p.R149Splc
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BMPR1B

NM_001203.3:p.R149Splc

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

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Racacho L et al.

European Journal of Human Genetics : Ejhg, 2015

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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."