Varaico: Literature-Extracted Genetic Variants

Gene:PHAX
Variant:p.S164Y
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PHAX

NM_032177.4:p.S164Y

Associated Papers

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.

Fiorica PN et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39992227 (PubMed )
Supplement: ccr-24-2785_supplementary_data_1_suppds1.xlsx › Supplemental_Table_3

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316
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