Varaico: Literature-Extracted Genetic Variants

Gene:VANGL1
Variant:p.P384R
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VANGL1

NM_138959.3:p.P384R

Associated Papers

Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.

Feng X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.

Cheng C et al.

Molecular Genetics & Genomic Medicine, 2021

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM3_ESM.xlsx › Supplementary_Table_S2

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

Li Z et al.

Bmc Musculoskeletal Disorders, 2020

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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."