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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL13A1

Variant:p.R91*

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COL13A1

NM_001368882.1:p.R91*

hg38:chr10:69802694 C>T

Associated Papers

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Rodríguez Cruz PM et al.

Brain : a Journal of Neurology, 2019

31081514 (PubMed )

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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."