Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.S14Splc
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CHCHD10

NM_213720.3:p.S14Splc

Associated Papers

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

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Bartoletti-Stella A et al.

Journal of Neurology, 2021

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