Varaico: Literature-Extracted Genetic Variants

Gene:IFT140
Variant:p.E790K
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IFT140

NM_014714.4:p.E790K

Associated Papers

Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery.

Beyer T et al.

Molecular & Cellular Proteomics : Mcp, 2025

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Chang X et al.

Frontiers in Genetics, 2018

30323833 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Xu M et al.

Human Genetics, 2015

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Xu B et al.

Nature Genetics, 2012

23042115 (PubMed )
Supplement: NIHMS410678-supplement-5.xls › suppl_table_2
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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."