Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.T34T
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OPTN

NM_001008212.2:p.T34T

Associated Papers

PTEN-induced kinase 1 gene single-nucleotide variants as biomarkers in adjuvant chemotherapy for colorectal cancer: a retrospective study.

Mihara Y et al.

Bmc Gastroenterology, 2023

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_004_N

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.

Park J et al.

Molecular Medicine Reports, 2016

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

Bury JJ et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016

Polymorphisms of CSF1 and TM7SF4 genes in a case of mild juvenile Paget's disease found using next-generation sequencing.

Donáth J et al.

Croatian Medical Journal, 2015

Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China.

Li C et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
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