Varaico: Literature-Extracted Genetic Variants

Gene:POPDC1
Variant:p.R129W
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POPDC1

NM_001199563.2:p.R129W

Associated Papers

Zebrafish Congenital Heart Disease Models: Opportunities and Challenges.

Yang D et al.

International Journal of Molecular Sciences, 2024

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Systemic AAV9.BVES delivery ameliorates muscular dystrophy in a mouse model of LGMDR25.

Li H et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Bao C et al.

Frontiers in Oncology, 2021

34221990 (PubMed )
Supplement: Table_7.xlsx › Table_S7

The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population.

Shi Y et al.

Genetic Testing and Molecular Biomarkers, 2019

Mutational and functional analysis of the BVES gene coding region in Chinese patients with non-syndromic tetralogy of Fallot.

Wu M et al.

International Journal of Molecular Medicine, 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."