Varaico: Literature-Extracted Genetic Variants

Gene:DLST
Variant:p.V297_V298del2
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DLST

NM_001933.5:p.V297_V298del2

Associated Papers

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Qi H et al.

Plos Genetics, 2018

30532227 (PubMed )
Supplement: pgen.1007822.s011.xlsx › CodingDNM

Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.

Yu L et al.

Human Molecular Genetics, 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."