Varaico: Literature-Extracted Genetic Variants

Gene:COL13A1
Variant:p.I391delFs
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COL13A1

NM_001368882.1:p.I391delFs

Associated Papers

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Logan CV et al.

American Journal of Human Genetics, 2015

26626625 (PubMed )
Supplement: mmc2.pdf
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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."