Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.R294Q
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KRIT1

NM_194454.3:p.R294Q

Associated Papers

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.

Pande S et al.

American Journal of Medical Genetics. Part A, 2023

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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."