Varaico: Literature-Extracted Genetic Variants

Gene:PI4KA
Variant:p.Q2052_T2053delFs
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PI4KA

NM_058004.4:p.Q2052_T2053delFs

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

Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.

Parmar JM et al.

Neurology. Genetics, 2024

Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.

Tan IL et al.

Cell Reports, 2023

37917583 (PubMed )
Supplement: NIHMS1948186-supplement-2.xlsx › All-Pat-ClinVar_Coding

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Schlüter A et al.

Genome Medicine, 2023

37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Verdura E et al.

Brain : a Journal of Neurology, 2021

Integrative multiplatform molecular profiling of benign prostatic hyperplasia identifies distinct subtypes.

Liu D et al.

Nature Communications, 2020

32332823 (PubMed )
Supplement: 41467_2020_15913_MOESM6_ESM.xlsx › Sheet1
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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."