Varaico: Literature-Extracted Genetic Variants

Gene:DMRT2
Variant:p.D43fs
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DMRT2

NM_181872.6:p.D43fs

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

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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."