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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HES7

Variant:p.R137fs

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HES7

NM_001165967.2:p.R137fs

hg38:chr17:8121855 CCG>N

Associated Papers

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

Lv S et al.

Frontiers in Pediatrics, 2023

37691774 (PubMed )

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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."