structural maintenance of chromosomes flexible hinge domain-containing - Protein

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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. [Nucleic Acids Res. 2023]
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, et al. Nucleic Acids Res. 2023 Aug 11; 51(14):7269-7287.
Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant. [J Craniofac Surg. 2023]
Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant.
Bargiela M, Kueper J, Serebrakian AT, Browne MR, Brogna S, Peacock ZS, Bojovic B, Shaw ND, Liao EC. J Craniofac Surg. 2023 May 1; 34(3):849-854. Epub 2023 Mar 22.
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. [Neurology. 2022]
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, et al. Neurology. 2022 Mar 29; 98(13):e1384-e1396. Epub 2022 Feb 4.

RefSeq genomic sequence
See the genomic reference sequence for the SMCHD1 gene (NG_031972.2).
RefSeq mRNA
See reference mRNA sequence for the SMCHD1 gene (NM_015295.3).
RefSeq protein isoforms
See 13 reference sequence protein isoforms for the SMCHD1 gene.

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NP_056110 [Domain Mapping of Disease Mut...]
NP_056110
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
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reagent reviews
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reagents [ExactAntigen/Labome]
reagents
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