Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.R440Q
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CTSC

NM_001814.6:p.R440Q

Associated Papers

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

Wei H et al.

American Journal of Medical Genetics. Part A, 2020

Clinical implementation of gene panel testing for lysosomal storage diseases.

Gheldof A et al.

Molecular Genetics & Genomic Medicine, 2019

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Park JH et al.

Translational Oncology, 2018

29925043 (PubMed )
Supplement: mmc3.xlsx › Table_6
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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."