Reference - RRC(Research Resource Circulation)

Species	Resource	RRC ID	Title	Journal	Published	Link
Human and Animal Cells	293T(RCB2202)	82500	A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.	J Clin Immunol	2024-12-14	Pubmed Full text
Zebrafish	gSAIzGFFM593A	76494	Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.	EMBO Mol Med	2020-7-7	Pubmed Full text
Human and Animal Cells	HEV0031 , HEV0032 , HEV0038 , HEV0041	45247	A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.	Am J Hum Genet	2014-9-4	Pubmed Full text
Human and Animal Cells		44507	Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.	Hum Mutat	2013-10-1	Pubmed Full text
Zebrafish	Tg(chx10:GFP)/nns1	40002	Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.	J Med Genet	2015-5-1	Pubmed Full text
Human and Animal Cells	ΔRad51C-DT40 (RCB1623)	19176	Mutation of the RAD51C gene in a Fanconi anemia-like disorder.	Nat Genet	2010-5-1	Pubmed Full text
Human and Animal Cells	KOP(RCB2148)	18513	A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.	J Clin Invest	2011-10-1	Pubmed Full text

Reference - List