Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.K48Q
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CHMP2B

NM_014043.4:p.K48Q

Associated Papers

Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?

Amore G et al.

Journal of Neurology, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
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