Results 211 to 218 of about 590,083 (218)

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss

Human Mutation, 2022
Renkui Bai, Minjie Luo, Tiffiney Hartman
exaly  

A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1

Clinical Genetics, 2023
Yuwei Da, Jianying Duo
exaly  

A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia

Calcified Tissue International, 2022
Weibo Xia, Ou Wang, Xiaoping Xing
exaly  

A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81

Journal of Gene Medicine, 2023
Ashwin Dalal, Prajnya Ranganath, Bathula Siddardha   +2 more
exaly  

A Synonymous Variant in IL10RA Affects RNA Splicing in Paediatric Patients with Refractory Inflammatory Bowel Disease.

Journal of Crohn's and Colitis, 2016
Kyung Mo Kim, Jia Nee Foo, Jianjun Liu
exaly  

A synonymous variant in scavenger receptor, class B, type I gene is associated with lower SR-BI protein expression and function

Atherosclerosis, 2010
Jeffrey S Kieft, Lane Christenson
exaly  

A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease

Nature Genetics, 2011
Kevin Lebrigand, Pascal Barbry, Bernard Mari   +2 more
exaly  

A synonymous variant leading to MODY13: A case report and literature review

Molecular Genetics and Metabolism Reports
Yanmei Sang, Congli Chen
exaly