Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.E330_E331Splc
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FMR1

NM_002024.6:p.E330_E331Splc

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

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

Sitzmann AF et al.

American Journal of Medical Genetics. Part A, 2018

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Quartier A et al.

European Journal of Human Genetics : Ejhg, 2017

Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype.

Limprasert P et al.

Genetics Research International, 2016

Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.

Handt M et al.

Molecular and Cellular Probes, 0

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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."