RecName: Full=Transcription factor COE3; AltName: Full=Early B-cell fa - Protein

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Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome. [Neurol Genet. 2023]
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.
Ciaccio C, Pantaleoni C, Moscatelli M, Chiapparini L, Nigro V, Valente EM, Sciacca F, Canafoglia L, Bulgheroni S, D'Arrigo S. Neurol Genet. 2023 Apr; 9(2):e200049. Epub 2023 Jan 23.
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype. [Eur J Paediatr Neurol. 2022]
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.
Ignatius E, Puosi R, Palomäki M, Forsbom N, Pohjanpelto M, Alitalo T, Anttonen AK, Avela K, Haataja L, Carroll CJ, et al. Eur J Paediatr Neurol. 2022 Mar; 37:1-7. Epub 2021 Dec 26.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism. [Hum Genomics. 2021]
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, et al. Hum Genomics. 2021 Jul 13; 15(1):44. Epub 2021 Jul 13.

RefSeq genomic sequence
See the genomic reference sequence for the EBF3 gene (NG_030038.1).
RefSeq protein isoforms
See 25 reference sequence protein isoforms for the EBF3 gene.

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Q9H4W6 [Domain Mapping of Disease Mut...]
Q9H4W6
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]
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ExactAntigen/Labome

RecName: Full=Transcription factor COE3; AltName: Full=Early B-cell factor 3; Sh...
RecName: Full=Transcription factor COE3; AltName: Full=Early B-cell factor 3; Short=EBF-3; AltName: Full=Olf-1/EBF-like 2; Short=O/E-2; Short=OE-2
gi|13959320|sp|Q9H4W6.2|COE3_HUMAN

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