Varaico: Literature-Extracted Genetic Variants

Gene:GFM1
Variant:p.V137M
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GFM1

NM_024996.7:p.V137M

Associated Papers

Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.

Khan AU et al.

American Journal of Medical Genetics. Part A, 2022

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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."