Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Q521_I522Splc
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KRIT1

NM_194454.3:p.Q521_I522Splc

Associated Papers

Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.

Gold JI et al.

American Journal of Human Genetics, 2025

40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.

Gold J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl

Review of familial cerebral cavernous malformations and report of seven additional families.

de Vos IJ et al.

American Journal of Medical Genetics. Part A, 2017

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