Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.I307N
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FMR1

NM_002024.6:p.I307N

Associated Papers

FXS causing missense mutations disrupt FMRP granule formation, dynamics, and function.

Starke EL et al.

Plos Genetics, 2022

Learning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us.

Santos AR et al.

Learning & Memory (cold Spring Harbor, N.y.), 2014

Fragile X syndrome: from gene discovery to therapy.

Heulens I et al.

Frontiers in Bioscience (landmark Edition), 2011

Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function.

Zhang YQ et al.

Cell, 2001

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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."