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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PI4KA

Variant:p.D1901fs

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PI4KA

NM_058004.4:p.D1901fs

hg38:chr22:20712587 GTC>N

Associated Papers

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

Manisha KY et al.

Neurology. Genetics, 2024

39184309 (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."