Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.R327*
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HOXD13

NM_000523.4:p.R327*

Associated Papers

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Scheidecker S et al.

European Journal of Human Genetics : Ejhg, 2025

Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

Dai L et al.

Plos One, 2014

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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."