Varaico: Literature-Extracted Genetic Variants

Gene:RBFOX1
Variant:p.P68S
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RBFOX1

NM_018723.4:p.P68S

Associated Papers

Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.

Mol MO et al.

Alzheimer's Research & Therapy, 2022

35650585 (PubMed )
Supplement: 13195_2022_1018_MOESM1_ESM.xlsx › Table_S6_candidate_variants

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.

Maksemous N et al.

Biomedicines, 2020

32466254 (PubMed )
Supplement: biomedicines-08-00134-s001.zip › biomedicines-802193-supplementary-fianl › Supplementary_Table_S3.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339
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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."