Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.T669fs
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ECEL1

NM_004826.4:p.T669fs

Associated Papers

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.

Jin JY et al.

Biomed Research International, 2020

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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."