Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.P95L
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TOR1A

NM_000113.3:p.P95L

Associated Papers

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Hamanaka K et al.

Npj Genomic Medicine, 2025

Mutation screening of GNAL gene in patients with primary dystonia from Northeast China.

Miao J et al.

Parkinsonism & Related Disorders, 2013

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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."