Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.E401_V402Splc
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ZMPSTE24

NM_005857.5:p.E401_V402Splc

Associated Papers

Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.

Le Collen L et al.

European Journal of Endocrinology, 2025

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Navarro CL et al.

European Journal of Human Genetics : Ejhg, 2014

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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."