Work

Evaluating the Consistency of Smarcb1 Variant Classification and Assertions of Genotype-Phenotype Relationships in Clinvar

Year: 2025

Type: article

Source: Cancer Genetics

DOI: 10.1016/j.cancergen.2025.06.005

Authors: Samarth Satish, Matan Bone, Deborah Ritter, Sharon E. Plon

Institutions: University of Manchester, Baylor College of Medicine

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Human Genome Research Institute

Award: Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)

OpenAlex ID: W4411334243

FWCI: 0.522

Cites: 12

Cited by: 1

Related to: 10