Phenotype–genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence

The ability to discriminate between deleterious and neutral amino acid substitutions in the genes of patients remains a significant challenge in human genetics. The increasing availability of genomic sequence data from multiple vertebrate species allows inclusion of sequence conservation and physico...

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Bibliografiske detaljer
Main Authors: Kashuk, Carl S., Stone, Eric A., Grice, Elizabeth A., Portnoy, Matthew E., Green, Eric D., Sidow, Arend, Chakravarti, Aravinda, McCallion, Andrew S.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2005
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1157046/
https://ncbi.nlm.nih.gov/pubmed/15956201
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0503259102
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