Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL2
Variant:p.R113L
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ADAMTSL2

NM_014694.4:p.R113L

Associated Papers

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Owen MJ et al.

Nature Communications, 2022

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.

Elhoury ME et al.

Cardiology in the Young, 2015

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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."