scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1047477465 |
P356 | DOI | 10.1186/S13023-014-0113-9 |
P932 | PMC publication ID | 4224754 |
P698 | PubMed publication ID | 25332050 |
P5875 | ResearchGate publication ID | 267274300 |
P50 | author | Eva Klopocki | Q50793922 |
Denise Horn | Q56955997 | ||
Angela Kaindl | Q56956238 | ||
P2093 | author name string | Christoph Hübner | |
Britta Hartmann | |||
Birgit Spors | |||
Andreas Busche | |||
Sylvie Picker-Minh | |||
P2860 | cites work | New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish | Q24316006 |
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans | Q24339604 | ||
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome | Q24542360 | ||
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome | Q28306313 | ||
Rab3D regulates a novel vesicular trafficking pathway that is required for osteoclastic bone resorption | Q30475918 | ||
Phenotypic variability in Micro syndrome: report of new cases. | Q33320581 | ||
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome | Q34345568 | ||
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. | Q34768417 | ||
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease | Q34865360 | ||
Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? | Q35571085 | ||
Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders | Q37157313 | ||
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome | Q41936180 | ||
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome | Q42688004 | ||
MICRO syndrome: an entity distinct from COFS syndrome. | Q51939733 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P921 | main subject | Warburg micro syndrome | Q6839205 |
homozygosity | Q114049690 | ||
P304 | page(s) | 113 | |
P577 | publication date | 2014-10-21 | |
P1433 | published in | Orphanet Journal of Rare Diseases | Q15756117 |
P1476 | title | Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. | |
P478 | volume | 9 |