Varaico: Literature-Extracted Genetic Variants

Gene:PRRC2A
Variant:p.E974Q
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PRRC2A

NM_004638.4:p.E974Q

Associated Papers

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Sobel Naveh NS et al.

Hepatology Communications, 2022

35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1

Identification of novel non-synonymous variants associated with type 2 diabetes-related metabolites in Korean population.

Park TJ et al.

Bioscience Reports, 2019

31652446 (PubMed )
Supplement: BSR-2019-0078_supp.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."