Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole exome sequencing reveals two novel mutations in GREB1L in two Chinese families with renal agenesis.

QJM : monthly journal of the Association of Physicians - 25 Jun 2024

Xie F, Zhou L, Luo P, Xi H, Yu W, Ma N, Wang D, Peng Y

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to China
Share to Congenital Abnormalities
Share to East Asian People
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney

Share to Kidney Diseases

Share to Neoplasm Proteins

Share to Pedigree

Source

Identifiers

PMID: 38410081
DOI: 10.1093/qjmed/hcae036

Genes

GREB1L

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole exome sequencing reveals two novel mutations in GREB1L in two Chinese families with renal agenesis.PMID 38410081Read ↗

Clinical Exome Sequencing Identifies a Novel Mutation of the GREB1L Gene in a Chinese Family with Renal Agenesis.Semantic proximity Read ↗

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSemantic proximity Read ↗

A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system.Semantic proximity Read ↗

A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.Semantic proximity Read ↗

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.Semantic proximity Read ↗

A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.Semantic proximity Read ↗

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.Semantic proximity Read ↗

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.Semantic proximity Read ↗

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.Semantic proximity Read ↗

Novel EYA1 variants causing Branchio-oto-renal syndrome.Semantic proximity Read ↗

[Genetic analysis of a fetus with renal dysplasia/hypoplasia due to a variant of GREB1L gene and literature review].Semantic proximity Read ↗

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in HumansSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.