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- [3] Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa JOURNAL OF DERMATOLOGY, 2014, 41 (04): : 350 - 351
- [4] Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (08):
- [6] Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy Human Genome Variation, 10
- [7] Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype JOURNAL OF DERMATOLOGY, 2014, 41 (10): : 939 - 940