Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.D132A
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TSEN54

NM_207346.3:p.D132A

Associated Papers

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.

Ghasemi MR et al.

Bmc Medical Genomics, 2024

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Teoh HL et al.

Neural Plasticity, 2017

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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."