Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.S471Splc
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KRIT1

NM_194454.3:p.S471Splc

Associated Papers

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.

Fusco C et al.

Clinical Genetics, 2021

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Spiegler S et al.

Molecular Genetics & Genomic Medicine, 2014

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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."