Varaico: Literature-Extracted Genetic Variants

Gene:MEPE
Variant:p.S93delFs
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MEPE

NM_001184697.2:p.S93delFs

Associated Papers

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD et al.

Genetics in Medicine Open, 2025

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Schrauwen I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."