Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.Q57_T63del7
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CTSD

NM_001909.5:p.Q57_T63del7

Associated Papers

Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing.

Lin TY et al.

International Journal of Molecular Sciences, 2021

Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis Pigmentosa.

Regensburger M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

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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."