Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.E462_G463delFs
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ACADVL

NM_000018.4:p.E462_G463delFs

Associated Papers

Proband-independent haplotyping based on NGS-based long-read sequencing for detecting pathogenic variant carrier status in preimplantation genetic testing for monogenic diseases.

Zhang P et al.

Frontiers in Molecular Biosciences, 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."