collagen alpha-1(VII) chain isoform X8 [Homo sapiens]

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Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation. [Am J Med Genet A. 2022]
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
Natale MI, Manzur GB, Lusso SB, Cella E, Giovo ME, Andrada R, Goitia J, Fernández MF, Della Giovanna PS, Guillamondegui MJ, et al. Am J Med Genet A. 2022 Nov; 188(11):3153-3161. Epub 2022 Aug 18.
COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa. [J Dermatol. 2022]
COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa.
Chao YC, Hong JB, Liu C, Lee MS, Lin RY. J Dermatol. 2022 Sep; 49(9):e313-e314. Epub 2022 May 13.
Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A. [J Dermatol Sci. 2022]
Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.
Akasaka E, Nakano H, Sawamura D. J Dermatol Sci. 2022 Jun; 106(3):193-195. Epub 2022 Apr 25.

RefSeq genomic sequence
See the genomic reference sequence for the COL7A1 gene (NG_007065.1).
RefSeq mRNA
See reference mRNA sequence for the COL7A1 gene (XM_054345178.1).

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Protein