Varaico: Literature-Extracted Genetic Variants

Gene:PRRC2A
Variant:p.R1156Q
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PRRC2A

NM_004638.4:p.R1156Q

Associated Papers

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.

Morimoto M et al.

Npj Genomic Medicine, 2023

36765070 (PubMed )
Supplement: 41525_2022_343_MOESM1_ESM.pdf
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