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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG1

Variant:p.G41_D42Fs

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ALG1

NM_019109.5:p.G41_D42Fs

hg38:chr16:5071972 CGAC>TGGTG

Associated Papers

Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

Quinlan A et al.

American Journal of Medical Genetics. Part A, 2025

39324476 (PubMed )

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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."