Results 121 to 130 of about 154,476 (163)

A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy. [PDF]

J Med Life
Capisizu A, Sandu C, Caragea RM, Capisizu AS.   +3 more
europepmc   +1 more source

<i>PROS1</i> (Cys228Tyr) missense mutation associated with mesenteric and pulmonary venous thromboembolism during the COVID-19 pandemic: a case report. [PDF]

Front Cardiovasc Med
Huang J, Zhang Y, Yu H, Liu W.
europepmc   +1 more source

<i>De novo</i> missense mutation in <i>MYT1l</i> leading to autosomal dominant intellectual disability 39 and autism spectrum disorder: a case report. [PDF]

Front Pediatr
Wang X, Lin S, Chen Y, Qi Y, Sun X, Wang W, Jiang K.   +6 more
europepmc   +1 more source

PRITrans: A Transformer-Based Approach for the Prediction of the Effects of Missense Mutation on Protein-RNA Interactions. [PDF]

Int J Mol Sci
Ge F, Li CF, Zhang CM, Zhang M, Yu DJ.
europepmc   +1 more source

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy. [PDF]

J Multidiscip Healthc
Dong J, Zhang W, Chen Q, Zha L.
europepmc   +1 more source

Identification of a Novel Homozygous <i>SLC34A1</i> Missense Mutation and a Heterozygous <i>SLC34A3</i> Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia. [PDF]

Int J Mol Sci
Mura-Escorche G, García-Suarez LC, Lebredo-Álvarez I, Ramos-Trujillo E, Claverie-Martin F.   +4 more
europepmc   +1 more source

A novel missense mutation c.1381T>C: p.(S461P) in <i>POLE</i> causes multiple molecular features of endometrial carcinoma in China: a case report. [PDF]

Front Oncol
Li Y, Wang L, Han L, Zheng Z, Yan J.
europepmc   +1 more source

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria. [PDF]

Front Genet
Jia N, Yimin Y, Li M, Jiang L, Liu Y.
europepmc   +1 more source

Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid. [PDF]

Animals (Basel)
Quatember H, Nell B, Richter B, Rigler D, Dolezal M, Sykora S, Wallner B.   +6 more
europepmc   +1 more source

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter]. [PDF]

J Multidiscip Healthc
Idrus HH.
europepmc   +1 more source