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Literature summary for 3.4.22.38 extracted from

  • Khan, B.; Ahmed, Z.; Ahmad, W.
    A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis (2010), J. Investig. Med., 58, 720-724.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
G243E the missense mutation is associated with autosomal recessive pycnodysostosis Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
CTSK
-
Homo sapiens