Varaico: Literature-Extracted Genetic Variants

Gene:PIGO
Variant:p.S461Y
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PIGO

NM_032634.4:p.S461Y

Associated Papers

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.

Chuan Z et al.

Frontiers in Genetics, 2022

35571021 (PubMed )
Supplement: Table1.XLSX › Table_S1

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Dong X et al.

Journal of Medical Genetics, 2020

32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
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