Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.S177L
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ETHE1

NM_014297.5:p.S177L

Associated Papers

Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

Hassaan HM et al.

American Journal of Medical Genetics. Part A, 2025

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Park KJ et al.

Annals of Laboratory Medicine, 2016

27578510 (PubMed )
Supplement: alm-36-561-s011.pdf
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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."