Varaico: Literature-Extracted Genetic Variants

Gene:CNNM4
Variant:p.L170P
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CNNM4

NM_020184.4:p.L170P

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 BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.

Khan AO

Retina (philadelphia, Pa.), 2024

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

PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.

Khan AO

Retina (philadelphia, Pa.), 2020

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N et al.

Clinical Genetics, 2018

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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."