Varaico: Literature-Extracted Genetic Variants

Gene:CHAMP1
Variant:p.K620*
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CHAMP1

NM_032436.4:p.K620*

Associated Papers

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.

Amenta S et al.

European Journal of Human Genetics : Ejhg, 2023

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

Järvelä I et al.

Human Genetics, 2021

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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."