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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSENEN

Variant:p.I77insFs

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PSENEN

NM_172341.4:p.I77insFs

hg38:chr19:35746768 C>CCA

Associated Papers

Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.

Li W et al.

The British Journal of Dermatology, 2019

30144026 (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."