نتایج جستجو برای: hirschsprung disease

تعداد نتایج: 1490190  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
Carl S Kashuk Eric A Stone Elizabeth A Grice Matthew E Portnoy Eric D Green Arend Sidow Aravinda Chakravarti Andrew S McCallion

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 physicochemical properties of residues to be used for functional prediction. In this study, the RET rece...

Journal: :Archives of disease in childhood 1972
A G MacIver R Whitehead

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