Varaico: Literature-Extracted Genetic Variants

Gene:CLU
Variant:p.T203I
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CLU

NM_001831.4:p.T203I

Associated Papers

Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.

Moreno-Gázquez I et al.

Bmc Research Notes, 2023

37784196 (PubMed )
Supplement: 13104_2023_6491_MOESM1_ESM.xlsx › Supplementary_Table_4

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S2

Genetics of dementia in a Finnish cohort.

Pasanen P et al.

European Journal of Human Genetics : Ejhg, 2018

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.

Vardarajan BN et al.

Annals of Neurology, 2015

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations.

Bettens K et al.

Molecular Neurodegeneration, 2015

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."