Varaico: Literature-Extracted Genetic Variants

Gene:POMK
Variant:p.V105_Q109delFs
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POMK

NM_032237.5:p.V105_Q109delFs

Associated Papers

Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.

Preiksaitiene E et al.

American Journal of Medical Genetics. Part A, 2020

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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."