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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FMR1

Variant:p.G442D

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FMR1

NM_001185075.2:p.G442D

hg38:chrX:147944993 G>A

Associated Papers

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.

D'Incal CP et al.

European Journal of Human Genetics : Ejhg, 2025

41120736 (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."