Results 271 to 280 of about 176,215 (308)

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

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, EarlyView.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +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

The <i>v ²⁴</i> Allele is a Missense Mutation Within the Predicted Tryptophan 2,3-dioxygenase Protein Domain of <i>vermilion</i>. [PDF]

MicroPubl Biol
Raab LM, Kucera S, Oliver B, Benner L.
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

Fragile X syndrome due to a missense mutation

European Journal of Human Genetics, 2014
Fragile X syndrome is a common inherited form of intellectual disability and autism spectrum disorder. Most patients exhibit a massive CGG-repeat expansion mutation in the FMR1 gene that silences the locus. In over two decades since the discovery of FMR1,
Leila K Myrick, Noralane M Lindor, Salman Kirmani   +2 more
exaly   +2 more sources

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Predicting Oncogenic Missense Mutations

2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI), 2019
With the rapid progress of cancer genome studies, many missense mutations in populations of somatic cells of different cancer types and at different stages have been identified. However, it is challenging to understand the implications of these cancer-related variants.
Xue Lei, Boshen Wang, Alan Perez-Rathke, Wei Tian 0003, Chia-Yi Chou, Yan-Yuan Tseng, Jie Liang 0002   +6 more
openaire   +2 more sources

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability

Psychiatric Genetics, 2016
Non-syndromic autosomal recessive intellectual disability (ID) is a genetically heterogeneous disorder with more than 50 mutated genes to date. ID is characterized by deficits in memory skills and language development with difficulty in learning, problem solving, and adaptive behaviors, and affects ∼ 1% of the population.
Nasim, Vasli, Iltaf, Ahmed, Kirti, Mittal, Mehrnaz, Ohadi, Anna, Mikhailov, Muhammad A, Rafiq, Attya, Bhatti, Melissa T, Carter, Danielle M, Andrade, Muhammad, Ayub, John B, Vincent, Peter, John   +11 more
openaire   +2 more sources

Novel missense mutations in PAX9 causing oligodontia

Archives of Oral Biology, 2012
We investigated the disease-causing gene of oligodontia in Chinese families and analysed the pathogenesis of mutations of this gene that results in oligodontia.Two families with oligodontia, but of different descent and 100 unrelated healthy controls were enrolled in our study. Genomic DNA was isolated from blood samples.
Jia, Liang, Guangtai, Song, Qing, Li, Zhuan, Bian   +3 more
openaire   +2 more sources

Making Sense of Missense Mutations

Science Translational Medicine, 2013
Genetic variation that is deleterious is on average younger than neutral variation.
openaire   +1 more source