Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.R1290_A1298ins3
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EVC2

NM_147127.5:p.R1290_A1298ins3

Associated Papers

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Shamseldin HE et al.

Genome Medicine, 2021

34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM et al.

Cell Reports, 2015

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Shaheen R et al.

European Journal of Human Genetics : Ejhg, 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."