Skip to Main Content

Paper Details

A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Jpn J Clin Oncol
0
2023
Amino acid, BMPR1A genes, Cys499, HHT, JPS, Juvenile polyposis syndrome, MSH2, MSH2 domain, NM_005359.6:, SMAD3, SMAD4, SMAD4 gene, SMAD4 or BMPR1A genes, SMAD4 protein, SMAD4 variants, amino acids, autosomal dominant inherited disorder, autosomal dominant, inherited disorder, c, germline, hereditary hemorrhagic telangiectasia, hereditary, hemorrhagic telangiectasia, juvenile polyposis syndrome, patients
Author NameAffiliation
Yasushi OkazakiIntractable Disease Research Center, Graduate School of Medicine, Juntendo University
Yasushi OkazakiIntractable Disease Research Center, Graduate School of Medicine, Juntendo University
  • 1 - 2

Datasets

Release 1.2