Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.Q343*
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AUTS2

NM_015570.4:p.Q343*

Associated Papers

AUTS2-related syndrome: Insights from a large European cohort.

Loberti L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
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