Varaico: Literature-Extracted Genetic Variants

Gene:MTSS1
Variant:p.E208K
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MTSS1

NM_014751.6:p.E208K

Associated Papers

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease.

Scaglia F et al.

Muscle & Nerve, 2008

Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.

Song S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

No mutation was detected in the LMNA gene among sporadic Charcot-Marie-Tooth patients.

Song SJ et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2006

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