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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MACF1

Variant:p.L1770insFs

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MACF1

NM_001394062.1:p.L1770insFs

hg38:chr1:39331897 T>TG

Associated Papers

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.

Pfendner E et al.

Experimental Dermatology, 2005

15810881 (PubMed )

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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."