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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALS2

Variant:p.S14F

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ALS2

NM_020919.4:p.S14F

hg38:chr2:201767363 G>A

Associated Papers

CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis.

Ikeda A et al.

Pnas Nexus, 2024

39131911 (PubMed )

Supplement: pgae319_supplementary_data.pdf

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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."