Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3C
Variant:p.V337M
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SEMA3C

NM_006379.5:p.V337M

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

Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.

Gunadi et al.

The Journal of International Medical Research, 2021

Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan.

Yang W et al.

Neurogastroenterology and Motility, 2019

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

Jiang Q et al.

American Journal of Human Genetics, 2015

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.

Jiang Q et al.

Human Mutation, 2012

Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis.

Sellick GS et al.

Blood, 2008

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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."