Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.L362_F363insFs
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ZMPSTE24

NM_005857.5:p.L362_F363insFs

Associated Papers

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.

Smigiel R et al.

American Journal of Medical Genetics. Part A, 2010

Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

Morais P et al.

European Journal of Pediatrics, 2009

Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.

Kariminejad A et al.

Saudi Medical Journal, 2009

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