Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.R527H
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SREBF1

NM_004176.5:p.R527H

Associated Papers

Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics.

Cenni V et al.

Aging, 2014

Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

Scharner J et al.

Proteins, 2014

[Primary lipodystrophies].

Capeau J et al.

Annales D'endocrinologie, 2007

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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."