Varaico: Literature-Extracted Genetic Variants

Gene:CNNM4
Variant:p.R519*
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CNNM4

NM_020184.4:p.R519*

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

Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Villiger L et al.

Molecular Therapy. Nucleic Acids, 2021

34631280 (PubMed )
Supplement: mmc3.xlsx › Tabelle1

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Daneshmandpour Y et al.

Journal of Medical Genetics, 2019

Intra-familial phenotype variability in patients with Jalili syndrome.

Gerth-Kahlert C et al.

Eye (london, England), 2015

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

Doucette L et al.

Ophthalmic Genetics, 2013

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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."