Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.Y488*
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AUTS2

NM_015570.4:p.Y488*

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

Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.

Gauld C et al.

Bmc Psychiatry, 2021

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.

Saeki S et al.

Clinical Case Reports, 2019

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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."