SAMN30111823
External Id
Jawaharlal Nehru Medical College
INSDC center name
2022-08-02T00:00:00Z
INSDC first public
2022-08-02T21:01:05.870Z
INSDC last update
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
17
age
MedGenome Labs
biomaterial_provider
To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy.
description
Whole blood
isolate
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
female
sex
Whole blood
tissue
Human sample from Homo sapiens
title