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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLN6

Variant:p.L233_I235del0

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CLN6

NM_017882.3:p.L233_I235del0

hg38:chr15:68208370 AGATGAAGAG>A

Associated Papers

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.

Vairo FP et al.

Molecular Genetics and Metabolism Reports, 2017

28831385 (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."