Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.P318delFs
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TSEN54

NM_207346.3:p.P318delFs

Associated Papers

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y et al.

Orphanet Journal of Rare Diseases, 2011

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y et al.

Brain : a Journal of Neurology, 2011

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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."