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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSD

Variant:p.K184delFs

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CTSD

NM_001909.5:p.K184delFs

hg38:chr11:1757475 GC>G

Associated Papers

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Rus CM et al.

Orphanet Journal of Rare Diseases, 2022

35505348 (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."