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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PI4KA

Variant:p.N1694insFs

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PI4KA

NM_058004.4:p.N1694insFs

hg38:chr22:20721332 G>GT

Associated Papers

Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities (NEDSPLB) in an Indian Child.

Kumar Uk K et al.

Indian Journal of Pediatrics, 2025

39804451 (PubMed )

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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."