Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Y646F
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LMNA

NM_170707.4:p.Y646F

Associated Papers

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.

Miyoshi Y et al.

Clinical Genetics, 2008

Mislocalization of prelamin A Tyr646Phe mutant to the nuclear pore complex in human embryonic kidney 293 cells.

Pan Y et al.

Biochemical and Biophysical Research Communications, 2007

Changes in the Nuclear Envelope in Laminopathies.

Dutta S et al.

Advances in Experimental Medicine and Biology, 0

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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."