home > bioproject > PRJNA74825
identifier PRJNA74825
type bioproject
sameAs
organism Homo sapiens
title Ciliopathies Exome Sequencing
description The study is aimed at identifying new genes involved in pediatric brain disorders from inbred families originating predominantly in the Middle East. Each patient analyzed to date has a specific and highly unique neurodevelopmental disorder that is likely to be recessive in nature. Many patients have one of the diseases along the "ciliopathy" spectrum of diseases, with evidence of kidney failure, retinal blindness and cerebellar ataxia.
data type Phenotype or Genotype
organization
Broad Institute
external link
properties 
{...}
dbXrefs
sra-run  SRR1068599SRR1068621SRR1068643SRR1068665SRR1068711SRR2183398SRR2183427SRR2183446SRR2183470SRR2183495 More
sra-submission  SRA123107SRA291502SRA050307
biosample  SAMN00789174SAMN00789164SAMN00789171SAMN00789139SAMN00789148SAMN03578740SAMN03578812SAMN03578587SAMN03578120SAMN03578703 More
sra-sample  SRS292248SRS292238SRS292245SRS292213SRS292222SRS1045305SRS1045314SRS1045315SRS1045318SRS1045320 More
sra-experiment  SRX404657SRX404660SRX404664SRX404666SRX404685SRX1164541SRX1164565SRX1164562SRX1164575SRX1164581 More
distribution JSONJSON-LD
status public
visibility unrestricted-access
dateCreated 2010-06-25T00:00:00+0000
dateModified 2010-06-25T00:00:00+0000
datePublished 2010-06-25T00:00:00+0000