Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1B
Variant:p.E246Q
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BMPR1B

NM_001203.3:p.E246Q

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

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM8_ESM.xlsx › Supplementary_Data_4_pathogenic
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