Mutations within FGFR2 are causative for various craniosynostosis syndromes. The mandibular dysmorphogenesis in these syndromes has rarely been quantitatively characterized prenatally and the cellular

NIAID Data Ecosystem20

Table S1 - Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

遗传病基因突变

视网膜研究

SNPs that are homozygous in both affected siblings and heterozygous or absent in the unaffected sibling. (DOC)

Figshare2015-12-02 更新50

CYP27B1 mutations in Turkish population.

遗传病基因突变

群体遗传学

CYP27B1 mutations in Turkish population.

NIAID Data Ecosystem30

C21orf2 mutations in axial SMD.

资源简介：

相关数据集