Varaico: Literature-Extracted Genetic Variants

Gene:DISP1
Variant:p.W475*
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DISP1

NM_001377229.1:p.W475*

Associated Papers

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

Mouden C et al.

Clinical Genetics, 2016

Clinical characterization of DISP1 haploinsufficiency: A case report.

Jun KR et al.

European Journal of Medical Genetics, 2013

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

Wat MJ et al.

Journal of Medical Genetics, 2011

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

Roessler E et al.

Human Genetics, 2009

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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."