Condition: Rhabdoid Tumor Predisposition Syndrome 2
rs1060502088
in
SMARCA4
gene and
Rhabdoid Tumor Predisposition Syndrome 2
PMID 24658002
2014 Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
PMID 24658001
2014 Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.