Varaico: Literature-Extracted Genetic Variants

Gene:PGAP1
Variant:p.Q500_I501Splc
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PGAP1

NM_024989.4:p.Q500_I501Splc

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG67

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
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