Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.R204S
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ARX

NM_139058.3:p.R204S

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
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