Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1B
Variant:p.M397R
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BMPR1B

NM_001203.3:p.M397R

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

Mutational analysis of consanguineous families and their targeted therapy against dwarfism.

Khan F et al.

Journal of Biomolecular Structure & Dynamics, 2025

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

Ullah A et al.

Annals of Human Genetics, 2018

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