Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.H535Y
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AUTS2

NM_015570.4:p.H535Y

Associated Papers

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.

Tinker RJ et al.

American Journal of Ophthalmology, 2025

40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf

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

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

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