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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRIT1

Variant:p.H293Q

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KRIT1

NM_194454.3:p.H293Q

hg38:chr7:92234559 G>T

Associated Papers

Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.

Pileggi S et al.

Journal of Molecular Neuroscience : Mn, 2010

20419355 (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."