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Point mutation

Genetic algorithm-based personalized models of human cardiac action potential

Dmitrii Smirnov, Andrey Pikunov, [ ... ], Igor R. Efimov

CPAD, Curated Protein Aggregation Database: A Repository of Manually Curated Experimental Data on Protein and Peptide Aggregation

A. Mary Thangakani, R. Nagarajan, [ ... ], M. Michael Gromiha

Longitudinal monitoring of KRAS-mutated circulating tumor DNA enables the prediction of prognosis and therapeutic responses in patients with pancreatic cancer

Fumiaki Watanabe, Koichi Suzuki, [ ... ], Toshiki Rikiyama

In vitro and in vivo characterization of Recifercept, a soluble fibroblast growth factor receptor 3, as treatment for achondroplasia

Diogo Gonçalves, Guylène Rignol, [ ... ], Christian Czech

Somatic Mutations in Exocrine Pancreatic Tumors: Association with Patient Survival

P. Sivaramakrishna Rachakonda, Andrea S. Bauer, [ ... ], Rajiv Kumar

Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant

Vanessa Neitzke-Montinelli, Priscila da Silva Figueiredo Celestino Gomes, [ ... ], Rosane Silva

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Clévia Rosset, Filippo Vairo, [ ... ], Patricia Ashton-Prolla

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions

Stuart A. Cain, Amanda McGovern, [ ... ], Cay M. Kielty

Genetic basis of calcifying cystic odontogenic tumors

Akane Yukimori, Yu Oikawa, [ ... ], Kei Sakamoto

Validation of a Multiplex Allele-Specific Polymerase Chain Reaction Assay for Detection of KRAS Gene Mutations in Formalin-Fixed, Paraffin-Embedded Tissues from Colorectal Cancer Patients

Sirirat Seekhuntod, Paninee Thavarungkul, Nuntaree Chaichanawongsaroj

TOX3 Mutations in Breast Cancer

James Owain Jones, Suet-Feung Chin, [ ... ], Ana-Teresa Maia

Sperm from Hyh Mice Carrying a Point Mutation in αSNAP Have a Defect in Acrosome Reaction

Luis Federico Bátiz, Gerardo A. De Blas, [ ... ], Luis S. Mayorga

A Point Mutation in Translation Initiation Factor eIF2B Leads to Function- and Time-Specific Changes in Brain Gene Expression

Liraz Marom, Igor Ulitsky, [ ... ], Orna Elroy-Stein

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