Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.G540R
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FMR1

NM_002024.6:p.G540R

Associated Papers

Rare FMR1 gene mutations causing fragile X syndrome: A review.

Sitzmann AF et al.

American Journal of Medical Genetics. Part A, 2018

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Quartier A et al.

European Journal of Human Genetics : Ejhg, 2017

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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."