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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PI4KA

Variant:p.P876S

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PI4KA

NM_058004.4:p.P876S

hg38:chr22:20764899 G>A

Associated Papers

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

Verdura E et al.

Brain : a Journal of Neurology, 2021

34415322 (PubMed )

Supplement: awab124_supplementary_data.pdf

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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."