Accession SAMC1645396
Accession in Other Database GSA-Human: HRS147600
Sample name C11
Title III:5
Sample type Human sample
Organism Homo sapiens
Description Blood of D11
Attributes *This sample record contains additional controlled-access information that is avaiable from GSA-Human by requesting study HRA000707 in the GSA-Human system.
Release date 2021-10-31
BioProject Accession PRJCA004678
Submitter Xun  Xu  (drxuxun@sjtu.edu.cn)
Organization Shanghai General Hospital
Submission date 2023-06-18

Sample Data

Resource name Description
GSA-Human (1) -
HRA000707  (Controlled Access) A novel deletion mutation in the PAX6 gene was found in a Han Chinese family with congenital aniridia, which may provide additional clues for identifying the transcription mechanism of PAX6. This line of investigation can provide insights towards identifying new gene defects of PAX6.
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