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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TXNL4A

Variant:p.L5F

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TXNL4A

NM_006701.5:p.L5F

hg38:chr18:79988380 G>A

Associated Papers

Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

Wood KA et al.

Human Molecular Genetics, 2019

31304552 (PubMed )

Supplement: supplementary_material_revised_ddz169.pdf

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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."