Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.Q717_N718Splc
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ECEL1

NM_004826.4:p.Q717_N718Splc

Associated Papers

ECEL1 mutation in distal arthrogryposis type 5D: A case report.

Begum J et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.

Alesi V et al.

International Journal of Molecular Sciences, 2021

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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."