Varaico: Literature-Extracted Genetic Variants

Gene:CNNM4
Variant:p.G364delFs
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CNNM4

NM_020184.4:p.G364delFs

Associated Papers

Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.

Lu J et al.

International Journal of Ophthalmology, 2025

Features, genetics and their correlation in Jalili syndrome: a systematic review.

Daneshmandpour Y et al.

Journal of Medical Genetics, 2019

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.

Rahimi-Aliabadi S et al.

Eye (london, England), 2016

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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."