Varaico: Literature-Extracted Genetic Variants

Gene:FBXO31
Variant:p.C283fs
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FBXO31

NM_024735.5:p.C283fs

Associated Papers

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.

Mir A et al.

Human Genetics, 2014

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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."