Varaico: Literature-Extracted Genetic Variants

Gene:ASTL
Variant:p.A169V
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ASTL

NM_001002036.4:p.A169V

Associated Papers

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Chang X et al.

Frontiers in Genetics, 2018

30323833 (PubMed )
Supplement: Table_1.xlsx › Sheet1
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