Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.V336I
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TFAP2B

NM_003221.4:p.V336I

Associated Papers

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

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Edward HL et al.

American Journal of Medical Genetics. Part A, 2019

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil

TFAP2B mutation and dental anomalies.

Tanasubsinn N et al.

Journal of Human Genetics, 2017

Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.

Xiong F et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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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."