Varaico: Literature-Extracted Genetic Variants

Gene:ACADSB
Variant:p.P314L
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ACADSB

NM_001609.4:p.P314L

Associated Papers

Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening.

Carling RS et al.

Jimd Reports, 2018

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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."