Literature summary for 3.4.22.38 extracted from

Li, H.Y.; Ma, H.W.; Wang, H.Q.; Ma, W.H.
Molecular analysis of a novel cathepsin K gene mutation in a Chinese child with pycnodysostosis (2009), J. Int. Med. Res., 37, 264-269.

Search for more literature for 3.4.22.38

Cloned(Commentary)

Cloned (Comment)	Organism
gene CTSK, DNA and amino acid sequence determination and analysis of wild-type genes and a pycnodysostosis patient mutation, sequence comparison	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
Q187P	a naturally occurring mutant gene, the c.684 A-C point mutation in exon 5 of the CTSK gene results in the typical clinical features found in Chinese patients with pycnodysostosis	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	gene Ctsk	-

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Release 2023.1 (January 2023)