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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GC

Variant:p.E38delFs

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GC

NM_000583.4:p.E38delFs

hg38:chr4:71769346 TC>T

Associated Papers

NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.

Rodriguez-Flores JL et al.

Nature Communications, 2024

39271666 (PubMed )

Supplement: 41467_2024_51819_MOESM9_ESM.xlsx › Supplementary_Data_6

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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."