Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.R345W
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F12

NM_000505.4:p.R345W

Associated Papers

Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.

Woodard DR et al.

Scientific Reports, 2021

A high-throughput cell-based Gaussia luciferase reporter assay for identifying modulators of fibulin-3 secretion.

Hulleman JD et al.

Journal of Biomolecular Screening, 2013

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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."