Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.R154*
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BMP2

NM_001200.4:p.R154*

Associated Papers

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.

Priestley JRC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.

Spedicati B et al.

Genes, 2022

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Tan TY et al.

American Journal of Human Genetics, 2017

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