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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Hlavní autoři: Kashuk, Carl S., Stone, Eric A., Grice, Elizabeth A., Portnoy, Matthew E., Green, Eric D., Sidow, Arend, Chakravarti, Aravinda, McCallion, Andrew S.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2005
Témata:
Biological Sciences
On-line přístup: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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