Varaico: Literature-Extracted Genetic Variants

Gene:PCYT2
Variant:p.Y244C
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PCYT2

NM_002861.5:p.Y244C

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG82

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G et al.

Scientific Reports, 2022

36344539 (PubMed )
Supplement: 41598_2022_22036_MOESM2_ESM.xlsx › Table1
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