Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.N227S
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CTSD

NM_001909.5:p.N227S

Associated Papers

Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.

Mohamed FE et al.

Frontiers in Pharmacology, 2024

Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.

Sakti DH et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2023

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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."