Varaico: Literature-Extracted Genetic Variants

Gene:LMNB2
Variant:p.E398K
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LMNB2

NM_032737.4:p.E398K

Associated Papers

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

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.

Parry DA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."