Additional file 2 of A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

PAX6基因突变分析

Additional file 2.

DataCite Commons2024-03-01 更新50

Whole Exome Sequencing for Characterization of Disease Causing Mutations in two Pakistani Families Suffering from Autosomal Recessive Ocular Disorders

遗传性眼病基因诊断

外显子组测序数据分析

We propose to use whole exome Agilent solution probes and paired end Illumina sequencing to sequence 4 individuals from two families suffering from novel autosomal recessive disease [microphthalmia, M

NIAID Data Ecosystem30

Sanger sequencing results of filtered candidate variants for the corneal dystrophy linked to chromosome 10q23-q24.

遗传性眼病基因诊断

Sanger测序

Sanger sequencing results of filtered candidate variants for the corneal dystrophy linked to chromosome 10q23-q24.

Figshare2016-06-21 更新30

Additional file 2 of A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

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