Varaico: Literature-Extracted Genetic Variants

Gene:KRT16
Variant:p.V52fs
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KRT16

NM_005557.4:p.V52fs

Associated Papers

A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions.

Ueda K et al.

Journal of Clinical Neurology (seoul, Korea), 2017

28516742 (PubMed )
Supplement: jcn-13-300-s001.pdf
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