Varaico: Literature-Extracted Genetic Variants

Gene:F3
Variant:p.M1K
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F3

NM_001993.5:p.M1K

Associated Papers

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

Chia PH et al.

Elife, 2018

Factor XI gene mutations in factor XI deficient patients of the Czech Republic.

Castaman G et al.

American Journal of Hematology, 2008

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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."