Varaico: Literature-Extracted Genetic Variants

Gene:RERE
Variant:p.V193A
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RERE

NM_001042681.2:p.V193A

Associated Papers

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects.

Kim BJ et al.

Disease Models & Mechanisms, 2018

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Jordan VK et al.

Human Mutation, 2018

Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells.

Kim BJ et al.

Plos One, 2014

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.

Kim BJ et al.

Plos One, 2013

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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."