Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.A497S
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ECEL1

NM_004826.4:p.A497S

Associated Papers

Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management.

Xia W et al.

Children (basel, Switzerland), 2022

Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.

Khan AO et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 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."