Varaico: Literature-Extracted Genetic Variants

Gene:LFNG
Variant:p.R286W
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LFNG

NM_001040167.2:p.R286W

Associated Papers

Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-III.

Wengryn P et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.

Wang L et al.

Journal of Human Genetics, 2024

Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

Lecca M et al.

Clinical Genetics, 2023

Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis.

Wengryn P et al.

Human Mutation, 2023

Effects of Notch glycosylation on health and diseases.

Urata Y et al.

Development, Growth & Differentiation, 2020

Screening of known disease genes in congenital scoliosis.

Takeda K et al.

Molecular Genetics & Genomic Medicine, 2018

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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."