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EP10.17: Analysis of genotypes and phenotypes in Chinese patients of TSC with denovo TSC1 and TSC2 gene mutations
Author(s) -
Yihua He
Publication year - 2019
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.21316
Subject(s) - tsc2 , tsc1 , medicine , phenotype , genotype , gene , genotype phenotype distinction , genetics , bioinformatics , biology , pi3k/akt/mtor pathway , signal transduction