hypothetical protein [Homo sapiens]

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Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG. [Am J Med Genet A. 2021]
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
Lugli L, Bariola MC, Ferri L, Lucaccioni L, Bertucci E, Cattini U, Torcetta F, Morrone A, Iughetti L, Berardi A. Am J Med Genet A. 2021 Apr; 185(4):1187-1194. Epub 2021 Jan 4.
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development. [Clin Genet. 2020]
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.
Mandel H, Cohen Kfir N, Fedida A, Shuster Biton E, Odeh M, Kalfon L, Ben-Harouch S, Fleischer Sheffer V, Hoffman Y, Goldberg Y, et al. Clin Genet. 2020 Oct; 98(4):402-407. Epub 2020 Aug 4.
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG). [Eur J Med Genet. 2019]
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).
Li G, Xu Y, Hu X, Li N, Yao R, Yu T, Wang X, Guo W, Wang J. Eur J Med Genet. 2019 Jan; 62(1):44-46. Epub 2018 Apr 28.

RefSeq genomic sequence
See the genomic reference sequence for the COG6 gene (NG_028352.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the COG6 gene.

Nucleotide
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BioSystems
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein