Varaico: Literature-Extracted Genetic Variants

Gene:MEPE
Variant:p.Q425fs
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MEPE

NM_020203.6:p.Q425fs

Associated Papers

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."