Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.R622W
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ALDH18A1

NM_002860.4:p.R622W

Associated Papers

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Yépez VA et al.

Genome Medicine, 2022

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Kremer LS et al.

Nature Communications, 2017

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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."