Varaico: Literature-Extracted Genetic Variants

Gene:DMRT2
Variant:p.M1L
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DMRT2

NM_181872.6:p.M1L

Associated Papers

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss-of-Function of DMRT2.

Rips J et al.

American Journal of Medical Genetics. Part A, 2026

Dmrt2 promotes transition of endochondral bone formation by linking Sox9 and Runx2.

Ono K et al.

Communications Biology, 2021

Homozygous DMRT2 variant associates with severe rib malformations in a newborn.

Bouman A et al.

American Journal of Medical Genetics. Part A, 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."