Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.C760F
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ECEL1

NM_004826.4:p.C760F

Associated Papers

Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.

Nagata K et al.

Acta Neuropathologica Communications, 2017

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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."