Varaico: Literature-Extracted Genetic Variants

Gene:IGSF5
Variant:p.T94S
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IGSF5

NM_001080444.2:p.T94S

Associated Papers

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.

Park HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2015

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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."