Varaico: Literature-Extracted Genetic Variants

Gene:TNPO3
Variant:p.R614C
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TNPO3

NM_012470.4:p.R614C

Associated Papers

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.

Xu C et al.

Genome Research, 2024

39060028 (PubMed )
Supplement: Supplemental_Table_S7.xlsx › Table_S7

Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.

Wu H et al.

Clinical Genetics, 2020

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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."