Varaico: Literature-Extracted Genetic Variants

Gene:LFNG
Variant:p.W195R
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LFNG

NM_001040167.2:p.W195R

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

Clinical genetics of spondylocostal dysostosis: A mini review.

Umair M et al.

Frontiers in Genetics, 2022

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.

Lefebvre M et al.

Journal of Medical Genetics, 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."