Varaico: Literature-Extracted Genetic Variants

Gene:CFAP418
Variant:p.T192fs
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CFAP418

NM_177965.4:p.T192fs

Associated Papers

Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations.

Clark AM et al.

Jci Insight, 2024

37971880 (PubMed )
Supplement: jciinsight-9-162621-s010.pdf

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.

Chen X et al.

Journal of Translational Medicine, 2018

A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.

Rahner N et al.

Ophthalmic Genetics, 2016

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.

Ravesh Z et al.

Molecular Vision, 2015

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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."