Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.A32P
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GATA4

NM_001308093.3:p.A32P

Associated Papers

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Ji J et al.

Cold Spring Harbor Molecular Case Studies, 2019

30755392 (PubMed )
Supplement: supp_mcs.a003756_Supplemental_Table_1.xlsx › S2._106_Clinical_cases_

Identification of functional mutations in GATA4 in patients with congenital heart disease.

Wang E et al.

Plos One, 2013

23626780 (PubMed )
Supplement: pone.0062138.s004.xlsx › information_of_all_mutations

Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease.

Schluterman MK et al.

American Journal of Medical Genetics. Part A, 2007

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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."