Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.I241N
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FMR1

NM_002024.6:p.I241N

Associated Papers

Function of FMRP Domains in Regulating Distinct Roles of Neuronal Protein Synthesis.

D'Souza MN et al.

Molecular Neurobiology, 2022

Splice form-dependent regulation of axonal arbor complexity by FMRP.

Zimmer SE et al.

Developmental Neurobiology, 2017

Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs.

Darnell JC et al.

Human Molecular Genetics, 2009

Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes.

Darnell JC et al.

Genes & Development, 2005

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

Castets M et al.

Human Molecular Genetics, 2005

New insights into Fragile X syndrome. Relating genotype to phenotype at the molecular level.

Pozdnyakova I et al.

The Febs Journal, 2005

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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."