Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.V145L
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RET

NM_020975.6:p.V145L

Associated Papers

Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.

Ruiz-Ferrer M et al.

Plos One, 2011

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.

Ruiz-Ferrer M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

Molecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding site.

Anders J et al.

The Journal of Biological Chemistry, 2001

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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."