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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSEN54

Variant:p.A325fs

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TSEN54

NM_207346.3:p.A325fs

hg38:chr17:75522054 GCC>N

Associated Papers

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

Kooshavar D et al.

Brain Communications, 2024

38444904 (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."