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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSENEN

Variant:p.V44F

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PSENEN

NM_172341.4:p.V44F

hg38:chr19:35746487 G>T

Associated Papers

Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.

Ralser DJ et al.

The Journal of Investigative Dermatology, 2019

30414910 (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."