Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.N401fs
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CTSD

NM_001909.5:p.N401fs

Associated Papers

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Komlosi K et al.

Orphanet Journal of Rare Diseases, 2018

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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."