Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.R544C
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ECEL1

NM_004826.4:p.R544C

Associated Papers

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.

Kava H et al.

Frontiers in Pediatrics, 2025

Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.

Illés A et al.

Children (basel, Switzerland), 2024

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Pollazzon M et al.

Genes, 2021

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc3.xlsx › A__Coding_mutations_IBD

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D et al.

American Journal of Human Genetics, 2019

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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."