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UnknownMutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.
Not available
S-EPMC3015065 | biostudies-literature
UnknownRole of tissue inhibitor of metalloproteinases-1 in the development of autoimmune lymphoproliferation.
Not available
S-EPMC2966912 | biostudies-literature
UnknownInvestigating the Role of Gut Microbiota in Pediatric Patients with Severe COVID-19 or MIS-C.
Not available
S-EPMC11767266 | biostudies-literature
UnknownCo-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.
Not available
S-EPMC2211507 | biostudies-literature
UnknownThe Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.
Not available
S-EPMC8549833 | biostudies-literature
UnknownNeonatal Developmental Venous Anomalies: Clinicoradiologic Characterization and Follow-Up.
Not available
S-EPMC7963246 | biostudies-literature
UnknownPhenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Not available
S-EPMC9394309 | biostudies-literature
UnknownFamilial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.
Not available
S-EPMC1860360 | biostudies-literature
UnknownLoss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
Not available
S-EPMC4684094 | biostudies-literature
ProteomicsPROTEOME OF BOVINE MITOCHONDRIA AND ROD OUTER SEGMENT DISKS: COMMONALITIES AND DIFFERENCES.
The retinal rod outer segment (OS) isa stack of diskssurrounded by the plasma membrane,housing proteins related to phototransduction as well asmitochondrial proteins involved in oxidative phosphorylation (OxPhos). This prompted us to compare the proteome of bovine OS disks and mitochondria, to asses...
ORGANISM(S): Bos taurus (Bovine) 
2022-03-01 | PXD008087 | Pride
Atp synthase  disks electron transfer chain  mass spectrometry  mitochondria  oxidative phosphorylation  rod outer segment  transmission electron microscopy. 
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