RecName: Full=Telomere length regulation protein TEL2 homolog; AltName - Protein

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TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature. [Am J Med Genet A. 2023]
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, et al. Am J Med Genet A. 2023 May; 191(5):1261-1272. Epub 2023 Feb 16.
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant. [Eur J Med Genet. 2021]
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.
Ciaccio C, Duga V, Pantaleoni C, Esposito S, Moroni I, Pinelli M, Castello R, Nigro V, Chiapparini L, D'Arrigo S, et al. Eur J Med Genet. 2021 Jan; 64(1):104116. Epub 2020 Dec 8.
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency. [Ophthalmic Genet. 2020]
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, García-Cazorla À, Juliá-Palacios N, Morales-Ballús M. Ophthalmic Genet. 2020 Dec; 41(6):656-658. Epub 2020 Sep 17.

RefSeq genomic sequence
See the genomic reference sequence for the TELO2 gene (NG_050910.1).
RefSeq protein isoforms
See 28 reference sequence protein isoforms for the TELO2 gene.

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Q9Y4R8 [Domain Mapping of Disease Mut...]
Q9Y4R8
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
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ExactAntigen/Labome
reagents [ExactAntigen/Labome]
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RecName: Full=Telomere length regulation protein TEL2 homolog; AltName: Full=Pro...
RecName: Full=Telomere length regulation protein TEL2 homolog; AltName: Full=Protein clk-2 homolog; Short=hCLK2
gi|166987394|sp|Q9Y4R8.2|TELO2_HUMA

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