Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.D156delFs
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DOK7

NM_173660.5:p.D156delFs

Associated Papers

Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.

Luan X et al.

Clinical Neurology and Neurosurgery, 2016

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

Maggi L et al.

Journal of Neurology, 2013

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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."