Varaico: Literature-Extracted Genetic Variants

Gene:CNNM4
Variant:p.S245L
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CNNM4

NM_020184.4:p.S245L

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

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

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

Daneshmandpour Y et al.

Journal of Medical Genetics, 2019

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.

Hirji N et al.

American Journal of Ophthalmology, 2018

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 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."