Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.S297T
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CTSK

NM_000396.4:p.S297T

Associated Papers

A Rare Case of Pyknodysostosis (Toulouse-Lautrec Syndrome): Dental Perspectives on Comprehensive Management.

Tyagi R et al.

Journal of Clinical and Experimental Dentistry, 2025

Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.

Alsagheir A et al.

Frontiers in Endocrinology, 2025

A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment

Verma V et al.

Journal of Clinical Research in Pediatric Endocrinology, 2020

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