Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.R22P
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SQSTM1

NM_003900.5:p.R22P

Associated Papers

Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.

Mokhtari D et al.

Human Genome Variation, 2024

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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."