RecName: Full=Tyrosine-protein phosphatase non-receptor type 23; AltNa - Protein

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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. [Eur J Hum Genet. 2020]
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM, et al. Eur J Hum Genet. 2020 Jan; 28(1):76-87. Epub 2019 Aug 8.
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs. [Eur J Hum Genet. 2018]
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, et al. Eur J Hum Genet. 2018 Oct; 26(10):1502-1511. Epub 2018 Jun 13.
Mutations of PTPN23 in developmental and epileptic encephalopathy. [Hum Genet. 2017]
Mutations of PTPN23 in developmental and epileptic encephalopathy.
Sowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, Thiele H, Arold ST, Bode H, Alkuraya FS, Borck G. Hum Genet. 2017 Nov; 136(11-12):1455-1461. Epub 2017 Oct 31.

RefSeq protein isoforms
See 4 reference sequence protein isoforms for the PTPN23 gene.

Q9H3S7 [Domain Mapping of Disease Mut...]
Q9H3S7
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein