RecName: Full=Collagen alpha-1(VII) chain; AltName: Full=Long-chain co - Protein

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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 protein isoforms
See 15 reference sequence protein isoforms for the COL7A1 gene.

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Q02388 [Domain Mapping of Disease Mut...]
Q02388
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
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]
reagents
ExactAntigen/Labome

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