Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.N289fs
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CTSK

NM_000396.4:p.N289fs

Associated Papers

Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.

Sayed Amr K et al.

Genes, 2021

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.

Kaur P et al.

Case Reports in Genetics, 2021

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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."