Results 161 to 170 of about 7,424,997 (207)

How Genomic and Structural Context Could Shape JAK-STAT Variant Pathogenicity. [PDF]

Twin Res Hum Genet
Hoffmann M, Lee HK.
europepmc   +1 more source

Database of recurrent mutations, an unbiased web resource to browse recurrent mutations in cancers. [PDF]

iScience
Chakroborty D, Vaparanta K, Ghimire B, Paatero I, Kurppa KJ, Elenius K.   +5 more
europepmc   +1 more source

Robust discovery of mutational signatures using power posteriors. [PDF]

PLoS Comput Biol
Xue C, Miller JW, Carter SL, Huggins JH.
europepmc   +1 more source

Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes. [PDF]

BMC Genomics
Srinivasan S, Subramanian S, Zhou H, Hoppmann A, Metzger P, Boerries M, Ramamoorthy S.   +6 more
europepmc   +1 more source

Cancer mutations in RAD51 and its paralogues. [PDF]

PLoS One
Valentine AL, Huth IL, Duff NM, Rabbani AZ, Donahue KN, Bush WA, Bouley RA, Petreaca RC.   +7 more
europepmc   +1 more source

Space Radiation and Cancer Risk in Astronauts: Models, Evidence, Uncertainties, and Emerging Imaging Perspectives. [PDF]

Tomography
Zanon C, Basilicata M, Chiaravalloti A, Giannotti N, Lupi A, Crimì F, Quaia E.   +6 more
europepmc   +1 more source

Heterozygous loss-of-function alleles associate the conserved 3'-5' exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5-fluorouracil. [PDF]

Mol Oncol
Sain R, Le Page Y, Percevault F, Becker E, Negroni L, Fernandez A, Cantero M, Muñoz-Santos D, Montoliu L, Garnier C, Primig M.   +10 more
europepmc   +1 more source

Prolonged response to combined BRAF and MEK inhibition in BRAF mutant colorectal cancer, a case report. [PDF]

Front Oncol
Guardascione M, Rizzetto M, Foltran L, Di Nardo P, de Scordilli M, Ongaro E, Fumagalli A, Calabrò A, Botticelli A, Marchetti P, Puglisi F.   +10 more
europepmc   +1 more source

Comprehensive analysis of mutational signatures and corresponding driver genes in cervical cancer from Xinjiang. [PDF]

Biochem Biophys Rep
Chen C, Zhao W, Guo M, Wang W, Ma J, Niyazi M, Zhu K.   +6 more
europepmc   +1 more source

Systematic mapping of O-GlcNAc transferase and O-GlcNAcase defines disease-associated variants. [PDF]

J Biol Chem
Kimi J, Malard F, Olivier-Van Stichelen S.   +2 more
europepmc   +1 more source