Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.C245*
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ECM1

NM_004425.4:p.C245*

Associated Papers

A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.

Taşdelen E et al.

American Journal of Medical Genetics. Part A, 2024

Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin.

Carnevale C et al.

Acta Dermato-venereologica, 2017

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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."