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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSEN54

Variant:p.C123_G124Splc

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TSEN54

NM_207346.3:p.C123_G124Splc

hg38:chr17:75517555 A>G

Associated Papers

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y et al.

Orphanet Journal of Rare Diseases, 2011

21749694 (PubMed )

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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."