Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.L261F
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APTX

NM_001195248.2:p.L261F

Associated Papers

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Brischoux-Boucher E et al.

Clinical Genetics, 2018

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

Mallaret M et al.

Journal of Neurology, 2016

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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."