Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.V168fs
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COL7A1

NM_000094.4:p.V168fs

Associated Papers

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.

Misra K et al.

International Journal of Molecular Sciences, 2024

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.

van den Akker PC et al.

Journal of Dermatological Science, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."