Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G1994D
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COL7A1

NM_000094.4:p.G1994D

Associated Papers

Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

Hong SA et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2022

35690907 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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