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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL7A1

Variant:p.G2055R

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COL7A1

NM_000094.4:p.G2055R

hg38:chr3:48575356 C>T

Associated Papers

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.

Ali FM et al.

Bmc Pediatrics, 2024

38580989 (PubMed )

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