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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POMK

Variant:p.Q214L

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POMK

NM_032237.5:p.Q214L

hg38:chr8:43122465 A>T

Associated Papers

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Safwat S et al.

Neurogenetics, 2024

38296890 (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."