Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
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
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.
Turgut GT et al.
Molecular Syndromology, 2023
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
Yıldırım Y et al.
European Journal of Human Genetics : Ejhg, 2018
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
Ullah A et al.
Annals of Human Genetics, 2018
Transforming Growth Factor β Superfamily Signaling in Development of Colorectal Cancer.
Jung B et al.
Gastroenterology, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.
Sakai E et al.
International Journal of Cancer, 2016
26510091 (PubMed )
Supplement: IJC-138-1634-s001.pdf
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
Stange K et al.
Orphanet Journal of Rare Diseases, 2015
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