Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.P517L
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FMR1

NM_002024.6:p.P517L

Associated Papers

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.

Tekendo-Ngongang C et al.

Genes, 2021

Unilateral diffuse white matter involvement in a patient with atypical FMR1 mutation.

Park KM et al.

Clinical Neurology and Neurosurgery, 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."