Varaico: Literature-Extracted Genetic Variants

Gene:COL13A1
Variant:p.G175delFs
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COL13A1

NM_001368882.1:p.G175delFs

Associated Papers

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.

Kediha MI et al.

Journal of Medical Case Reports, 2022

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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."