Homo sapiens collagen type VII alpha 1 chain (COL7A1), mRNA

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Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature. [BMC Pediatr. 2024]
Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
Ali FM, Zhou J, Wang M, Wang Q, Sun L, Mshenga MM, Lu H. BMC Pediatr. 2024 Apr 5; 24(1):242. Epub 2024 Apr 5.
Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa. [N Engl J Med. 2022]
Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa.
Guide SV, Gonzalez ME, Bağcı IS, Agostini B, Chen H, Feeney G, Steimer M, Kapadia B, Sridhar K, Quesada Sanchez L, et al. N Engl J Med. 2022 Dec 15; 387(24):2211-2219.
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.

RefSeq alternative splicing
See 15 reference mRNA sequence splice variants for the COL7A1 gene.
RefSeq protein product
See the reference protein sequence for collagen alpha-1(VII) chain precursor (NP_000085.1).

Protein
Protein sequence from Nucleotide coding region
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OMIM
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Nucleotide