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Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

✍ Scribed by Alberto Auricchio; Paola Griseri; Maria Luisa Carpentieri; Nicola Betsos; Annamaria Staiano; Arturo Tozzi; Manuela Priolo; Helen Thompson; Renata Bocciardi; Giovanni Romeo; Andrea Ballabio; Isabella Ceccherini

Book ID: 117852776
Publisher: American Society of Human Genetics
Year: 1999
Tongue: English
Weight: 205 KB
Volume: 64
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302329

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