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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRIT1

Variant:p.Q521_I522Splc

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KRIT1

NM_194454.3:p.Q521_I522Splc

hg38:chr7:92221901 C>A

Associated Papers

Molecular and Cellular Characterization of Primary Endothelial Cells from a Familial Cavernomatosis Patient.

Lorente-Herraiz L et al.

International Journal of Molecular Sciences, 2024

38612762 (PubMed )

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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."