Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.S27F
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ZMPSTE24

NM_005857.5:p.S27F

Associated Papers

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.

Garcia-Giralt N et al.

Human Genomics, 2024

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Ruggiero L et al.

Muscle & Nerve, 2015

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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."