Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.P35fs
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ACADVL

NM_000018.4:p.P35fs

Associated Papers

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Schwantje M et al.

Journal of Inherited Metabolic Disease, 2026

Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.

Yang J et al.

Cells, 2022

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

van der Meulen MH et al.

Circulation. Genomic and Precision Medicine, 2022

Recent Advances in Modeling Mitochondrial Cardiomyopathy Using Human Induced Pluripotent Stem Cells.

Pavez-Giani MG et al.

Frontiers in Cell and Developmental Biology, 2021

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.

Knottnerus SJG et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

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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."