Varaico: Literature-Extracted Genetic Variants

Gene:PI4KA
Variant:p.A1282V
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PI4KA

NM_058004.4:p.A1282V

Associated Papers

Identifying novel heterozygous PI4KA variants in fetal abnormalities.

Cheng C et al.

Bmc Medical Genomics, 2025

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Martínez-Rubio D et al.

International Journal of Molecular Sciences, 2023

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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."