Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.R527L
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SREBF1

NM_004176.5:p.R527L

Associated Papers

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

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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."