Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.D53E
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EFEMP1

NM_001039348.3:p.D53E

Associated Papers

A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms aberrant extracellular disulfide-linked homodimers and alters extracellular matrix composition.

Woodard DR et al.

Human Mutation, 2022

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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."