Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.R111P
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FMR1

NM_002024.6:p.R111P

Associated Papers

Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.

Yang S et al.

Archives of Pharmacal Research, 2023

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

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

Sitzmann AF et al.

American Journal of Medical Genetics. Part A, 2018

Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP.

Suhl JA et al.

Journal of Experimental Neuroscience, 2015

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

Collins SC et al.

American Journal of Medical Genetics. Part A, 2010

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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."