Varaico: Literature-Extracted Genetic Variants

Gene:MESP2
Variant:p.L125V
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MESP2

NM_001039958.2:p.L125V

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Clinical genetics of spondylocostal dysostosis: A mini review.

Umair M et al.

Frontiers in Genetics, 2022

Assessing risk for Mendelian disorders in a Bronx population.

diSibio G et al.

Molecular Genetics & Genomic Medicine, 2017

28944235 (PubMed )
Supplement: MGG3-5-516-s001.xlsx › Table_S2

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

Cornier AS et al.

American Journal of Human Genetics, 2008

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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."