Varaico: Literature-Extracted Genetic Variants

Gene:DISP1
Variant:p.A1471G
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DISP1

NM_001377229.1:p.A1471G

Associated Papers

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.

Mouden C et al.

Clinical Genetics, 2016

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.

Wat MJ et al.

Journal of Medical Genetics, 2011

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.

Kantarci S et al.

American Journal of Medical Genetics. Part A, 2010

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.

Brady PD et al.

European Journal of Medical Genetics, 0

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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."