Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.Q51K
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IHH

NM_002181.4:p.Q51K

Associated Papers

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

Kuil LE et al.

Plos Genetics, 2021

The advances of genetics research on Hirschsprung's disease.

Ke J et al.

Pediatric Investigation, 2018

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

Sribudiani Y et al.

Gastroenterology, 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."