Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.F393L
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EDNRB

NM_001122659.3:p.F393L

Associated Papers

RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.

Asai N et al.

Pathology International, 2006

Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.

Sakai T et al.

European Journal of Pediatrics, 2000

Hirschsprung's disease as a neurochristopathy.

Martucciello G

Pediatric Surgery International, 1997

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain.

Iwashita T et al.

Human Molecular Genetics, 1996

[Mutations of RET proto-oncogene in Hirschsprung disease].

Lyonnet S et al.

Comptes Rendus De L'academie Des Sciences. Serie Iii, Sciences De La Vie, 1994

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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."