Results 191 to 200 of about 151,372 (221)

Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis. [PDF]

Acta Neuropathol Commun
Takahashi H, Natsumeda M, Hara N, Koyama A, Shimizu H, Miyashita A, Satake D, Mouri Y, Tsukano J, Kawabe K, Tsukamoto Y, Okada M, Ogura R, Yuki A, Umezu H, Kakita A, Ikeuchi T, Oishi M.   +17 more
europepmc   +1 more source

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review. [PDF]

Front Pediatr
Tian F, Dong X, Yuan R, Hou X, Qing J, Li Y.   +5 more
europepmc   +1 more source

Investigation of missense mutation-related type 1 diabetes mellitus through integrating genomic databases and bioinformatic approach. [PDF]

Genomics Inform
Pakha DN, Yudhani RD, Irham LM.
europepmc   +1 more source

Biofunctional study on chemoresistance in esophageal squamous carcinoma cells induced by missense mutation of NOTCH1 p.E450K. [PDF]

J Thorac Dis
Li K, Hao W, Wu J, Liu X, Xing W, Zheng Y.   +5 more
europepmc   +1 more source

A rare germline BMP15 missense mutation causes hereditary ovarian immature teratoma in human. [PDF]

Proc Natl Acad Sci U S A
Liu Y, Fan H, Kang X, Hao Y, Wang N, Zheng H, Li Y, Kang S.   +7 more
europepmc   +1 more source

Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing. [PDF]

Cureus
Sotiriou S, Samara AA, Anastasakis E, Zikopoulos A, Papoulidis I, Manolakos E, Pavlidou E, Skentou C.   +7 more
europepmc   +1 more source

Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene. [PDF]

Stem Cell Res
Manhas A, Tripathi D, Noishiki C, Wu D, Liu L, Sallam K, Lee JT, Fukaya E, Sayed N.   +8 more
europepmc   +1 more source

A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia. [PDF]

BMC Pediatr
Huang D, Jiang M, Zhu Y, Li D, Lu X, Gao J.   +5 more
europepmc   +1 more source

Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7). [PDF]

Hum Mol Genet
Deuis JR, Kumble S, Keramidas A, Ragnarsson L, Simons C, Pais L, White SM, Vetter I.   +7 more
europepmc   +1 more source

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle. [PDF]

Genet Sel Evol
Corbeau J, Grohs C, Jourdain J, Boussaha M, Besnard F, Barbat A, Plassard V, Rivière J, Hamelin C, Mortier J, Boichard D, Guatteo R, Capitan A.   +12 more
europepmc   +1 more source