RecName: Full=F-box-like/WD repeat-containing protein TBL1XR1; AltName - Protein

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The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects. [Orphanet J Rare Dis. 2024]
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Nagy A, Molay F, Hargadon S, Brito Pires C, Grant N, De La Rosa Abreu L, Chen JY, D'Souza P, Macnamara E, Tifft C, et al. Orphanet J Rare Dis. 2024 Feb 20; 19(1):79. Epub 2024 Feb 20.
Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants. [Gene. 2023]
Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
Ren M, Zheng H, Lu X, Lian W, Feng B. Gene. 2023 Nov 30; 886:147777. Epub 2023 Sep 6.
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene. [Clin Dysmorphol. 2022]
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.
Tesarova M, Baxova A, Hansikova H, Lambert L, Vondrackova A, Leiska A, Zeman J. Clin Dysmorphol. 2022 Jul 1; 31(3):145-148. Epub 2022 Feb 14.

RefSeq genomic sequence
See the genomic reference sequence for the TBL1XR1 gene (NG_047195.1).
RefSeq protein isoforms
See 26 reference sequence protein isoforms for the TBL1XR1 gene.

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Q9BZK7 [Domain Mapping of Disease Mut...]
Q9BZK7
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

RecName: Full=F-box-like/WD repeat-containing protein TBL1XR1; AltName: Full=Nuc...
RecName: Full=F-box-like/WD repeat-containing protein TBL1XR1; AltName: Full=Nuclear receptor corepressor/HDAC3 complex subunit TBLR1; AltName: Full=TBL1-related protein 1; AltName: Full=Transducin beta-like 1X-related protein 1
gi|23396874|sp|Q9BZK7.1|TBL1R_HUMAN

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