Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Q689*
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KRIT1

NM_194454.3:p.Q689*

Associated Papers

Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations.

Wang J et al.

Clinical and Translational Medicine, 2024

38450890 (PubMed )
Supplement: CTM2-14-e1610-s001.xlsx › Table_S2
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