Varaico: Literature-Extracted Genetic Variants

Gene:HES7
Variant:p.N29S
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HES7

NM_001165967.2:p.N29S

Associated Papers

A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report.

Lv S et al.

Frontiers in Pediatrics, 2023

Clinical genetics of spondylocostal dysostosis: A mini review.

Umair M et al.

Frontiers in Genetics, 2022

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.

Lefebvre M et al.

Journal of Medical Genetics, 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."