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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PREPL

Variant:p.E605K

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PREPL

NM_006036.4:p.E605K

hg38:chr2:44323345 C>T

Associated Papers

Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.

Monnens Y et al.

Jci Insight, 2024

39078710 (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."