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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:REEP2

Variant:p.S248fs

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REEP2

NM_001271803.2:p.S248fs

hg38:chr5:138445728 TCT>N

Associated Papers

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Giordani GM et al.

Scientific Reports, 2021

34782662 (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."