Varaico: Literature-Extracted Genetic Variants

Gene:SNAI2
Variant:p.A122V
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SNAI2

NM_003068.5:p.A122V

Associated Papers

Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.

Xue C et al.

Translational Psychiatry, 2025

Family-based genetic analysis in schizophrenia by whole-exome sequence to identify rare pathogenic variants.

Shang B et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024

Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Meng H et al.

Biomed Research International, 2020

33062672 (PubMed )
Supplement: 2495157.f1.xlsx › Table_S5

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Li W et al.

Neural Plasticity, 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."