Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L52R
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LMNA

NM_170707.4:p.L52R

Associated Papers

Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.

Bazrafshan S et al.

Cells, 2021

Lamin A-mediated nuclear lamina integrity is required for proper ciliogenesis.

Fan JR et al.

Embo Reports, 2020

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Cau P et al.

Seminars in Cell & Developmental Biology, 2014

Retinoblastoma protein prevents enteric nervous system defects and intestinal pseudo-obstruction.

Fu M et al.

The Journal of Clinical Investigation, 2013

Mitotic defects lead to pervasive aneuploidy and accompany loss of RB1 activity in mouse LmnaDhe dermal fibroblasts.

Pratt CH et al.

Plos One, 2011

Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies.

Odgren PR et al.

Plos One, 2010

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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."