Varaico: Literature-Extracted Genetic Variants

Gene:CNNM4
Variant:p.E561Splc
Back to variants list

CNNM4

NM_020184.4:p.E561Splc

Associated Papers

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1

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

Daneshmandpour Y et al.

Journal of Medical Genetics, 2019

Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.

Cherkaoui Jaouad I et al.

European Journal of Medical Genetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."