Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.L451F
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EFEMP1

NM_001039348.3:p.L451F

Associated Papers

A spectrum of cysteine mutations in fibulin-3 highlight its disulfide bonding complexity and potential to induce ER stress.

Collier GE et al.

Scientific Reports, 2025

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

Woodard DR et al.

Scientific Reports, 2021

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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."