Varaico: Literature-Extracted Genetic Variants

Gene:LMNB2
Variant:p.H157Y
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LMNB2

NM_032737.4:p.H157Y

Associated Papers

A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy.

Soleimanipour F et al.

Acta Neurologica Belgica, 2022

A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy.

Farajzadeh Valilou S et al.

Clinical Case Reports, 2021

Complex effects of laminopathy mutations on nuclear structure and function.

Ho R et al.

Clinical Genetics, 2019

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.

Janin A et al.

Orphanet Journal of Rare Diseases, 2017

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

Damiano JA et al.

Human Molecular Genetics, 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."