Varaico: Literature-Extracted Genetic Variants

Gene:PI4KA
Variant:p.K1808T
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PI4KA

NM_058004.4:p.K1808T

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG84

A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression.

Zhang K et al.

Frontiers in Immunology, 2022

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Salter CG et al.

Brain : a Journal of Neurology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."