Varaico: Literature-Extracted Genetic Variants

Gene:HES7
Variant:p.K134_R137insFs
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HES7

NM_001165967.2:p.K134_R137insFs

Associated Papers

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

Lv S et al.

Frontiers in Pediatrics, 2023

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.

Netravathi M et al.

Bmc Medical Genetics, 2015

Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

Willet CE et al.

Plos One, 2015

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

Sparrow DB et al.

American Journal of Medical Genetics. Part A, 2013

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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."