U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SRX14021290: WES of Homo sapiens: child male peripheral blood
1 ILLUMINA (HiSeq X Ten) run: 42.4M spots, 12.7G bases, 4Gb downloads

Design: Qualified DNA samples were fragmented into 200~300 bp. DNA libraries were prepared with KAPA Library Preparation Kit (Kapa Biosystems, KR0453) following the manufacturers instructions.
Submitted by: Xuanwu Hospital, Capital Medical University, Beijing, China
Study: Novel Compound Heterozygous Variants in PCCB Gene Causing Adult-onset Propionic Acidemia Presenting with Neuropsychiatric Symptoms
PRJNA802806 • SRP357821 • All experiments • All runs
show Abstracthide Abstract
We identified a novel compound heterozygous mutation in PCCB gene causing late-onset PA. Patients carrying mutations in PCCB gene tend to develop late-onset PA and present neuropsychiatric symptoms or/and signs. Further molecular biological research is needed to explore the genotype-phenotype correlations of PA.
Sample:
SAMN25597968 • SRS11857940 • All experiments • All runs
Organism: Homo sapiens
Library:
Name: 1
Instrument: HiSeq X Ten
Strategy: WGS
Source: GENOMIC
Selection: Hybrid Selection
Layout: PAIRED
Runs: 1 run, 42.4M spots, 12.7G bases, 4Gb
Run# of Spots# of BasesSizePublished
SRR1786047642,399,48512.7G4Gb2022-02-04

ID:
19731973

Supplemental Content

Related information

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...