Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.N53delFs
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CTSK

NM_000396.4:p.N53delFs

Associated Papers

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.

Mushiba AM et al.

American Journal of Medical Genetics. Part A, 2021

Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.

Shi X et al.

Medicine, 2017

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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."