Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.L530P
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SREBF1

NM_004176.5:p.L530P

Associated Papers

A mutation in the SREBF1 gene resulting in autosomal-dominant ichthyosis Follicularis, Atrichia, and photophobia syndrome.

Zheng B et al.

The Journal of Dermatology, 2025

A-type nuclear lamins, progerias and other degenerative disorders.

Smith ED et al.

Mechanisms of Ageing and Development, 2005

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.

Lloyd DJ et al.

Human Molecular Genetics, 2002

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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."