Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.L33L
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ECM1

NM_004425.4:p.L33L

Associated Papers

Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene.

Chelvan HT et al.

The Australasian Journal of Dermatology, 2012

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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."