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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLK7

Variant:p.S96L

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KLK7

NM_005046.4:p.S96L

hg38:chr19:50980422 G>A

Associated Papers

KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome.

Gensemer C et al.

Iscience, 2025

40949095 (PubMed )

Supplement: mmc1.pdf

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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."