Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.L1184F
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AUTS2

NM_015570.4:p.L1184F

Associated Papers

Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features.

Tian D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."