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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSD

Variant:p.K253insFs

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CTSD

NM_001909.5:p.K253insFs

hg38:chr11:1754976 T>TG

Associated Papers

Multimodal imaging and genetic characteristics of Chinese patients with USH2A-associated nonsyndromic retinitis pigmentosa.

Chen C et al.

Molecular Genetics & Genomic Medicine, 2020

32893482 (PubMed )

Supplement: MGG3-8-e1479-s001.docx

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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."