Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.S174*
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ARX

NM_139058.3:p.S174*

Associated Papers

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Gras M et al.

Journal of Medical Genetics, 2024

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor.

Mattiske T et al.

Plos One, 2018

30419043 (PubMed )
Supplement: pone.0206914.s011.docx
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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."