Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.R365fs
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EXPH5

NM_015065.3:p.R365fs

Associated Papers

Dominant Dystrophic Epidermolysis Bullosa with COL7A1 Variant Confirmed by Whole-Exome Sequencing in a Chinese Family and Genotype-Phenotype Correlation Analysis.

Feng X et al.

Molecular Syndromology, 2026

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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."