Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.P238insFs
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SQSTM1

NM_001142298.2:p.P238insFs

Associated Papers

Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.

Vedartham V et al.

Ophthalmic Genetics, 2019

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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."