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  1. RERE-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK538938
    ... Chromosome Locus Protein HGMD ClinVar RERE 1p36 ​.23 Arginine-glutamic acid dipeptide repeats protein RERE RERE Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Asparagine Synthetase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK525916
    ... impaired synthesis of asparagine. Insufficient physiologic levels of arginine cause neurologic impairment [ Ruzzo et al 2013 , Alfadhel et al ... Cited Alfadhel M, Alrifai MT, Trujillano D, ...
  3. Hypokalemic Periodic Paralysis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1338
    ... an amino acid change that turns positively charged arginines of voltage sensor S4 segments into other ... Change Reference Sequences c.664C>G p.Arg222Gly NM_000334 ​. ...
  4. Argininosuccinate Lyase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51784
    ... Argininosuccinic acid 0-1 0-1 Elevated 2 ... representative of the normal ranges; the normal references of individual laboratories should be used for clinical ...
  5. ZAP70-Related Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK20221
    ... have been reported. A pathogenic variant in the arginine residue (p.Arg465Cys) of the DLAARN motif of the ... Protein Change Reference Sequences c.239C>A (448C>A) p.Pro80Gln ...
  6. ACTG2 Visceral Myopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299311
    ... a CpG dinucleotide. Variants at five of these arginine residues (p.Arg40, p.Arg63, p.Arg178, p.Arg211, and ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment ...
  7. CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK25565
    ... posted live 29 October 2009 (lk) Original submission ... FCP1 forms a complex with arginine methyltransferase PRMT5 and it is a substrate for ...
  8. Diabetes Insipidus | DI | MedlinePlus 
    https://medlineplus.gov/diabetesinsipidus.html
    ... Diabetes Insipidus (National Institutes of Health) ... Article: Nomogram for predicting diabetes ...
  9. Arginase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1159
    ... stability. Deficiency of arginase leads to accumulation of arginine and related, toxic compounds ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
  10. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... 150 µmol/L depending on the laboratory's reference range) in the severe form but often lower in the ... is absent. Arginine and ornithine concentrations are in the low-to- ...
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