WGS identified a novel heterozygous mutation in SPTB gene in extremely rare spherocytosis with atrial septal defect - Project - Data resources

CNP0000089

WGS identified a novel heterozygous mutation in SPTB gene in extremely rare spherocytosis with atrial septal defect
Source: CNGBdb Project (ID CNP0000089)

0 0

Description: Whole genome sequencing and sanger sequencing in a trio with the child proband of extremely rare spherocytosis with atrial septal defect identified a de novo heterozygous deletion, c.1756delG in SPTB gene in the proband

Data type: Raw sequence reads

Sample scope: Other

Relevance: Medical

Submitter: 楠李; 母婴健康研究所

Release date: 2020-08-01

Last updated: 2019-07-17

DOI: 10.26036/CNP0000089

Statistics: 3 samples; 3 experiments; 3 runs

Data size: 192.91GB

Apply for data

Download metadata