Varaico: Literature-Extracted Genetic Variants

Gene:MCTP2
Variant:p.G203D
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MCTP2

NM_001385001.1:p.G203D

Associated Papers

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Parker LE et al.

Journal of the American Heart Association, 2021

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Lalani SR et al.

Human Molecular Genetics, 2013

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

Slavotinek AM et al.

European Journal of Human Genetics : Ejhg, 2006

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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."