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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN1

Variant:p.V185M

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PSEN1

NM_000021.4:p.V185M

hg38:chr14:73192648 G>A

Associated Papers

γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.

Pink AE et al.

The Journal of Investigative Dermatology, 2013

23096707 (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."