Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.P187L
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BMP2

NM_001200.4:p.P187L

Associated Papers

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Calpena E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32499606 (PubMed )
Supplement: 41436_2020_817_MOESM5_ESM.xlsx › Table_S4

SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.

Yang Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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