Varaico: Literature-Extracted Genetic Variants

Gene:EMC1
Variant:p.R487fs
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EMC1

NM_015047.3:p.R487fs

Associated Papers

Novel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in-depth exploration.

Dai X et al.

Prenatal Diagnosis, 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."