Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.R317T
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FMR1

NM_002024.6:p.R317T

Associated Papers

Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay.

Bram E et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019

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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."