Varaico: Literature-Extracted Genetic Variants

Gene:PERM1
Variant:p.A759G
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PERM1

NM_001394713.1:p.A759G

Associated Papers

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Aguiar T et al.

Frontiers in Genetics, 2022

35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.

Ben-Ali M et al.

Journal of Clinical Immunology, 2020

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