Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.W403C
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ECEL1

NM_004826.4:p.W403C

Associated Papers

ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.

Ahangari N et al.

Molecular Genetics & Genomic Medicine, 2023

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Yavarna T et al.

Human Genetics, 2015

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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."