Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.K37Q
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CASP1

NM_001257118.3:p.K37Q

Associated Papers

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Park JS et al.

Nature Communications, 2019

31300647 (PubMed )
Supplement: 41467_2019_11000_MOESM16_ESM.xlsx › Supplementary_Data_13_Wei

Frequency and signature of somatic variants in 1461 human brain exomes.

Wei W et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."