Results 181 to 190 of about 69,317 (259)

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. [PDF]

PLoS One
Mäkeläinen S, Ekman S, Hytönen MK, Lohi H, Kyöstilä K, Simon T, Andersson G, Hedhammar Å, Hansson K, Bergström TF.   +9 more
europepmc   +1 more source

<i>PHOX2B</i> Tyr14Ter Mutation Might Be Associated with Sustained Diurnal Hypertension: Case Report and Review of the Literature. [PDF]

Children (Basel)
Antonelli F, Sottili S, Paglietti MG, Onofri A, Cutrera R, Mazzoni M, Rossi A, Vuilleumier P, Allegorico A.   +8 more
europepmc   +1 more source

Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome. [PDF]

Hum Genome Var
Hirai S, Mitsubuchi H, Matsumoto S.
europepmc   +1 more source

ENSURE: the encyclopedia of suppressor tRNA with an AI assistant. [PDF]

Nucleic Acids Res
Ouyang Z, Zhang Y, Feng F, Zeng X, Wu Q, Hafeez A, Teng W, Kong Y, Bu X, Sun Y, Li B, Wen Y, Lun ZR, Qu L, Feng X, Zheng L.   +15 more
europepmc   +1 more source

Identification of small molecules that enhance aminoglycoside-mediated suppression of <i>CFTR</i> and <i>NF1</i> nonsense mutations. [PDF]

Mol Ther Oncol
Sammons J, Chen J, Thrasher K, Fu L, Du M, Wen H, Bostwick JR, Vinson P, Moukha-Chafiq O, Augelli-Szafran C, Keeling KM, Wallis D, Kesterson RA, Rowe SM, Bedwell DM.   +14 more
europepmc   +1 more source

Activated partial thromboplastin time prolongation without hemorrhagic dienhesis: a study of a chinese family coexisting with hereditary KNG1 p.Arg240 mutation and --SEA/αα genotype thalassemia. [PDF]

Ann Hematol
Bai Z, Hu J, Jin Y, Li X, Sun J, Zhang F, Wu D, Zhao F, Ji P.   +8 more
europepmc   +1 more source

A report of novel inactivating missense mutations of BRCA1 detected in patients with acute myeloid leukemia. [PDF]

J Med Case Rep
Ejaz S, Raashid A, Hameed Y, Abdullah I, Imtiaz N, Iqbal M, Khurshid M, Malik WN.   +7 more
europepmc   +1 more source

Regional nonsense constraint offers biological and clinical insights into genetic disease. [PDF]

Nat Commun
Blakes AJM, Whiffin N, Johnson CA, Ellingford JM, Banka S.   +4 more
europepmc   +1 more source

A case of childhood hyperekplexia due to a novel nonsense variant in the GLRA1 gene. [PDF]

Medicine (Baltimore)
Lin SZ, Sun XY, Tan YY, Qi YF, Jiang K.
europepmc   +1 more source

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant. [PDF]

Am J Case Rep
Al-Qahtani F, Alarfaj MA, Al-Abdullah A.
europepmc   +1 more source