Manami Iso
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View article: A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1 Open
View article: The CFTR gene variants in Japanese children with idiopathic pancreatitis
The CFTR gene variants in Japanese children with idiopathic pancreatitis Open
The cystic fibrosis transmembrane conductance regulator ( CFTR ) gene has been reported as one of the pancreatitis susceptibility genes. Although many variants of CFTR have been reported in Caucasian patients, there are few data in Japanes…
View article: An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome Open