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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SQSTM1

Variant:p.K238_N239insFs

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SQSTM1

NM_003900.5:p.K238_N239insFs

hg38:chr5:179825184 A>AAG

Associated Papers

A novel homozygous SQSTM1 frameshift variant in a Filipino adolescent with childhood-onset ataxia and gaze palsy.

Dichoso LP et al.

Parkinsonism & Related Disorders, 2026

41708390 (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."