Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.P112L
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HOXD13

NM_000523.4:p.P112L

Associated Papers

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.

Stewart TM et al.

Embo Molecular Medicine, 2023

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.

Peng Y et al.

International Journal of Molecular Sciences, 2016

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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."