Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.R31S
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ECM1

NM_004425.4:p.R31S

Associated Papers

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.

Nasir M et al.

Diagnostic Pathology, 2011

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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."