Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.G691R
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RET

NM_020975.6:p.G691R

Associated Papers

Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.

Di Zanni E et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

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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."