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16 results
  1. El-Hattab-Alkuraya Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584547
    ... NEDSBAS Molecular Pathogenesis WDR45B encodes for WD (tryptophan-aspartic ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment ...
  2. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... but has little effect on the brain, as aspartic acid does not enter the brain freely Cofactor supplementation ... and the substitution of the missing end-products. Aspartic acid is needed because in PC deficiency, oxaloacetate biosynthesis ...
  3. Childhood Cancer Genomics (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK374260
    ... diagnosis. All described insertions lead to replacement of aspartic acid at position 87 (D87) with either glycine, aspartic acid, serin, and tyrosine (GDSY) or glycine, aspartic acid, ...
  4. Childhood Acute Myeloid Leukemia Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK66019
    ... diagnosis. All described insertions lead to replacement of aspartic acid at position 87 (D87) with either glycine, aspartic acid, serin, and tyrosine (GDSY) or glycine, aspartic acid, ...
  5. COL1A1/2 Osteogenesis Imperfecta - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1295
    ... glycine codon and alanine, valine, glutamic acid, and aspartic acid result from substitutions in the second position of ... α1(I) chain by arginine, valine, glutamic acid, aspartic acid, and tryptophan are almost always lethal if they ...
  6. Cancer Pain (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65949
    ... order neurons by upregulation of N-methyl-D-aspartic acid channels and alteration in microglia cytoarchitecture. Chronic pain, ... failure, and the rest had mixed etiologies.[ 14 ] References Richmond C: Dame Cicely Saunders. Br Med J ...
  7. GJB2 gene 
    https://medlineplus.gov/genetics/gene/gjb2
    ... usually profound. This mutation replaces the amino acid aspartic acid with the amino acid asparagine at protein position ... Loss and Deafness, DFNA3 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Sep 28 [updated 2016 Dec 22]. ...
  8. COMP-Related Pseudoachondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1487
    ... the same pathogenic variant: deletion of a single aspartic acid codon p.Asp473 within a run of five ... posted live 6 April 2004 (dc) Original submission References Literature Cited Andrzejewski A, Péjin Z, Finidori G, ...
  9. TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584409
    ... large, multidomain protein comprising an amino-terminal tryptophan-aspartic-acid dipeptide (WD) domain, a middle unstructured region, and ... posted live 13 June 2022 (sn) Original submission References Literature Cited Anazi S, Maddirevula S, Salpietro V, ...
  10. Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK43417
    ... for class II aaRSs and those specific for aspartic acid recognition [ Bonnefond et al 2005 ]. Based on the ... posted live 22 February 2010 (mvdk) Original submission References Literature Cited Bonnefond L, Fender A, Rudinger-Thirion ...
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