Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

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Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1047477465
P356DOI10.1186/S13023-014-0113-9
P932PMC publication ID4224754
P698PubMed publication ID25332050
P5875ResearchGate publication ID267274300

P50authorEva KlopockiQ50793922
Denise HornQ56955997
Angela KaindlQ56956238
P2093author name stringChristoph Hübner
Britta Hartmann
Birgit Spors
Andreas Busche
Sylvie Picker-Minh
P2860cites workNew RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishQ24316006
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humansQ24339604
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndromeQ24542360
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeQ28306313
Rab3D regulates a novel vesicular trafficking pathway that is required for osteoclastic bone resorptionQ30475918
Phenotypic variability in Micro syndrome: report of new cases.Q33320581
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndromeQ34345568
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.Q34768417
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary diseaseQ34865360
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 disordersQ37157313
A homozygous RAB3GAP2 mutation causes Warburg Micro syndromeQ41936180
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeQ42688004
MICRO syndrome: an entity distinct from COFS syndrome.Q51939733
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P921main subjectWarburg micro syndromeQ6839205
homozygosityQ114049690
P304page(s)113
P577publication date2014-10-21
P1433published inOrphanet Journal of Rare DiseasesQ15756117
P1476titleLarge homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
P478volume9