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  1. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65842
    ... syndrome WT1 deletion X Denys-Drash syndrome WT1 missense mutation X Perlman syndrome DIS3L2 mutation X Fanconi anemia ... mutations in the WT1 gene.[ 15 ] Specifically, germline missense mutations in the WT1 gene are responsible for most ...
  2. Tuberous Sclerosis Complex - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1220
    ... Smith M, Smalley SL, Henske EP. A novel missense mutation in the GTPase activating protein homology region of ... M, Rott HD. Characterization of a novel TSC2 missense mutation in the GAP related domain associated with minimal ...
  3. Episodic Ataxia Type 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1501
    ... familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Arch Neurol. ... Sutherland GR, Richards RI. Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene ...
  4. A Quick Q&A with Computational Biophysicists 
    https://infocus.nlm.nih.gov/...k-qa-with-computational-biophysicists
    ... systems. To do this, I identify functionally important missense mutations (a genetic change that results in the substitution ... and build the connection between genotype and phenotype. Missense mutations can render proteins nonfunctional and may be responsible ...
  5. Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK169222
    ... al.: Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met ... von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype. Invest Ophthalmol Vis ...
  6. Ataxia-Telangiectasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK26468
    ... Gatti RA. A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and ... Ishii E, Zannini L, Delia D, Mizutani S. Missense mutation and defective function of ATM in a childhood ...
  7. IRF6-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1407
    ... Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. ... M, Hirano A, Niikawa N, Yoshiura K. Two missense mutations of the IRF6 gene in two Japanese families ...
  8. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... clearly pathogenic variant, 13% had VUS defined as “missense mutations and mutations that occur in analyzed intronic regions ... MA, Potter JD, Ramirez CJ, et al.: Understanding missense mutations in the BRCA1 gene: an evolutionary approach. Proc ...
  9. COL4A1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7046
    ... J, Marieges MT. Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal ... 152A(10):2550-5. Two families with novel missense mutations in COL4A1: When diagnosis can be missed. [J ...
  10. Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65830
    ... KM, Dou S, Chi D, et al.: Single missense mutation in the tyrosine kinase catalytic domain of the ... Futami H, Hai N, et al.: Two germline missense mutations at codons 804 and 806 of the RET ...
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