Varaico: Literature-Extracted Genetic Variants

Gene:MESP1
Variant:p.L120P
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MESP1

NM_018670.4:p.L120P

Associated Papers

Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.

Tu LT et al.

Diagnostics (basel, Switzerland), 2025

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Toyama M et al.

Plos One, 2022

35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1

MESP1 loss‑of‑function mutation contributes to double outlet right ventricle.

Zhang M et al.

Molecular Medicine Reports, 2017

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

MESP1 Mutations in Patients with Congenital Heart Defects.

Werner P et al.

Human Mutation, 2016

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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."