Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.P186_P187ins0
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ARX

NM_139058.3:p.P186_P187ins0

Associated Papers

Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).

Arvio M et al.

Case Reports in Genetics, 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."