Varaico: Literature-Extracted Genetic Variants

Gene:IQGAP1
Variant:p.R766*
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IQGAP1

NM_003870.4:p.R766*

Associated Papers

CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease.

Doering L et al.

Disease Models & Mechanisms, 2023

37584388 (PubMed )
Supplement: dmm-16-049811-s1.pdf

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Reuter MS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.

Reuter MS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."