methyl-CpG-binding domain protein 5 isoform 2 [Homo sapiens]

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Germline mosaicism in a family with MBD5 haploinsufficiency. [Cold Spring Harb Mol Case Stud...]
Germline mosaicism in a family with MBD5 haploinsufficiency.
Bhatia M, Cavalleri GL, White M, Delanty N, Sweeney BJ, Costello DJ, Greally MT, Benson KA. Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7). Epub 2022 Dec 28.
[Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants]. [Zhonghua Er Ke Za Zhi. 2022]
[Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].
Jing XW, Cheng MM, Niu XY, Yang Y, Yang XL, Yang ZX, Zhang YH. Zhonghua Er Ke Za Zhi. 2022 Apr 2; 60(4):345-349.
Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene. [J Alzheimers Dis. 2021]
Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.
González-Ortega G, Llamas-Velasco S, Arteche-López A, Quesada-Espinosa JF, Puertas-Martín V, Gómez-Grande A, López-Álvarez J, Saiz Díaz RA, Lezana-Rosales JM, Villarejo-Galende A, et al. J Alzheimers Dis. 2021; 84(1):73-78.

RefSeq genomic sequence
See the genomic reference sequence for the MBD5 gene (NG_017003.3).
RefSeq mRNA
See reference mRNA sequence for the MBD5 gene (NM_018328.5).
RefSeq protein isoforms
See 60 reference sequence protein isoforms for the MBD5 gene.

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NP_060798 [Domain Mapping of Disease Mut...]
NP_060798
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
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
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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