Varaico: Literature-Extracted Genetic Variants

Gene:LFNG
Variant:p.T254M
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LFNG

NM_001040167.2:p.T254M

Associated Papers

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

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Shamseldin HE et al.

Genome Medicine, 2021

34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
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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."