Varaico: Literature-Extracted Genetic Variants

Gene:HEMK1
Variant:p.E53Q
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HEMK1

NM_016173.5:p.E53Q

Associated Papers

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.

Muhammad N et al.

Frontiers in Neurology, 2023

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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."