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

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

7 Mar 2006

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 Cellular transport and secretion
Share to Erythrocyte Function and Pathophysiology
Share to Ion channel regulation and function

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16532399
DOI: 10.1086/502681

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

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf SyndromePMID 16532399Read ↗

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?Semantic proximity Read ↗

Rab and Arf proteins in genetic diseases.Semantic proximity Read ↗

RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.Semantic proximity Read ↗

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.Semantic proximity Read ↗

Rab GTPases, membrane trafficking and diseases.Semantic proximity Read ↗

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.Semantic proximity Read ↗

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.Semantic proximity Read ↗

A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?Semantic proximity Read ↗

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.Semantic proximity Read ↗

A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs.Semantic proximity Read ↗

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.Semantic proximity Read ↗

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.Semantic proximity Read ↗

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