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Results 1 - 10 of 20 for Clustering
  1. GPHN gene 
    ... mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum ... Weissenhorn W, Betz H. Molecular basis of gephyrin clustering at inhibitory synapses: role of G- and E- ...
    https://medlineplus.gov/genetics/gene/gphn - Genetics
  2. LDLRAP1 gene 
    ... recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits. J Biol Chem. 2005 ... binding and internalization but not for LDL receptor clustering in coated pits. J Biol Chem. 2004 Aug ...
    https://medlineplus.gov/genetics/gene/ldlrap1 - Genetics
  3. Robinow syndrome 
    ... van Bon BW, Carvalho CM. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  4. TCOF1 gene 
    ... in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
  5. Geleophysic dysplasia 
    ... in the microfibrillar network, which is an organized clustering of thread-like filaments (called microfibrils) in the ...
    https://medlineplus.gov/genetics/condition/geleophysic-dysplasia - Genetics
  6. Spinal muscular atrophy with respiratory distress type 1 
    ... respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat. 2007 Aug;28(8):808-15. ...
    https://medlineplus.gov/...-atrophy-with-respiratory-distress-type-1 - Genetics
  7. Rosacea 
    ... Egeberg A, Hansen PR, Gislason GH, Thyssen JP. Clustering of autoimmune diseases in patients with rosacea. J ...
    https://medlineplus.gov/genetics/condition/rosacea - Genetics
  8. GRIN2B-related neurodevelopmental disorder 
    ... JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  9. GUCY2D gene 
    ... Bird AC, Moore AT, Bhattacharya SS, Hunt DM. Clustering and frequency of mutations in the retinal guanylate ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  10. Molybdenum cofactor deficiency 
    ... mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum ...
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency - Genetics
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