tyrosyl-DNA phosphodiesterase 2 [Homo sapiens]

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Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia. [Hum Genet. 2023]
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.
Zagnoli-Vieira G, Brazina J, Van Den Bogaert K, Huybrechts W, Molenaers G, Caldecott KW, Van Esch H. Hum Genet. 2023 Sep; 142(9):1417-1427. Epub 2023 Aug 10.
A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature. [Eur J Med Genet. 2021]
A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature.
Zoghi S, Khamirani HJ, Hassanipour H, Bostanian P, Masoudian R, Dastgheib SA. Eur J Med Genet. 2021 Dec; 64(12):104348. Epub 2021 Oct 1.
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23). [J Hum Genet. 2020]
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).
Errichiello E, Zagnoli-Vieira G, Rizzi R, Garavelli L, Caldecott KW, Zuffardi O. J Hum Genet. 2020 Dec; 65(12):1135-1141. Epub 2020 Jul 10.

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NP_057698 [Domain Mapping of Disease Mut...]
NP_057698
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

tyrosyl-DNA phosphodiesterase 2 [Homo sapiens]
tyrosyl-DNA phosphodiesterase 2 [Homo sapiens]
gi|23510348|ref|NP_057698.2|

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