Literature summary for 1.14.14.16 extracted from

Concolino, P.; Mello, E.; Minucci, A.; Giardina, E.; Zuppi, C.; Toscano, V.; Capoluongo, E.
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form (2009), BMC Med. Genet., 10, 72.

Protein Variants

Protein Variants	Comment	Organism
P30L	missense mutation associated with congenital adrenal hyperplasia	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	P08686	-	-

Synonyms	Comment	Organism
21-hydroxylase	-	Homo sapiens

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Release 2023.1 (January 2023)