Associated Papers
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
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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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
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Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
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RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.
So MT et al.
Plos One, 2011
Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations.
Kjaer S et al.
Nature Structural & Molecular Biology, 2010
Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.
Kjaer S et al.
Human Molecular Genetics, 2003
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Seri M et al.
Human Mutation, 1997
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