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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FMR1

Variant:p.R483fs

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FMR1

NM_002024.6:p.R483fs

hg38:chrX:147943302 A>AN

Associated Papers

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Strømme P et al.

Nature Genetics, 2002

11889467 (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."