Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.Q276fs
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ECM1

NM_004425.4:p.Q276fs

Associated Papers

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.

Dinçsoy Bir F et al.

Molecular Syndromology, 2025

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

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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."