Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.M1K
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AFP

NM_001134.3: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

Acute infantile liver failure due to mutations in the TRMU gene.

Zeharia A et al.

American Journal of Human Genetics, 2009

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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."