Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A1
Variant:p.T310M
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SLC25A1

NM_005984.5:p.T310M

Associated Papers

Clinical and genetic characteristics of myotonia congenita in Chinese population.

He Y et al.

Channels (austin, Tex.), 2024

38720415 (PubMed )
Supplement: KCHL_A_2349823_SM7931.docx

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Li Y et al.

Channels (austin, Tex.), 2022

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Moon IS et al.

Journal of Korean Medical Science, 2009

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