Varaico: Literature-Extracted Genetic Variants

Gene:GFM1
Variant:p.G227R
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GFM1

NM_024996.7:p.G227R

Associated Papers

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L et al.

Orphanet Journal of Rare Diseases, 2020

A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation.

You C et al.

Brain and Behavior, 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."