Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.I375_K377del0
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ABHD12

NM_001042472.3:p.I375_K377del0

Associated Papers

Genetic aspects of ataxias in a cohort of Turkish patients.

Gogus B et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Thomas Q et al.

Journal of Medical Genetics, 2022

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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."