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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNKP

Variant:p.E326Q

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PNKP

NM_007254.4:p.E326Q

hg38:chr19:49862424 C>G

Associated Papers

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

Nair P et al.

American Journal of Medical Genetics. Part A, 2016

27232581 (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."