Varaico: Literature-Extracted Genetic Variants

Gene:PBRM1
Variant:p.M1_G2insFs
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PBRM1

NM_001405607.1:p.M1_G2insFs

Associated Papers

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.

van Engelen N et al.

Pediatric Blood & Cancer, 2025

40580017 (PubMed )
Supplement: supplement_1.docx

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
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