Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.H142Y
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MFN2

NM_014874.4:p.H142Y

Associated Papers

Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.

Araújo de Melo Campos JT et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Lu YY et al.

Chinese Medical Journal, 2017

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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."