Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C76Y
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NOTCH3

NM_000435.3:p.C76Y

Associated Papers

Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.

Cho BPH et al.

Journal of the American Heart Association, 2024

SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.

Papageorgiou L et al.

Genes, 2024

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.

Hack RJ et al.

Brain : a Journal of Neurology, 2023

36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf

Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.

Wei L et al.

Science Advances, 2021

33523857 (PubMed )
Supplement: abd7703_SM.pdf

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX
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