Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease (original) (raw)
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. 1999 Apr;64(4):1216–1221. doi: 10.1086/302329
, N Betsos
, A Tozzi
, M Priolo
, G Romeo
PMCID: PMC1377847 PMID: 10090908
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