Varaico: Literature-Extracted Genetic Variants

Gene:DPH1
Variant:p.S255I
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DPH1

NM_001383.6:p.S255I

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

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Genome-wide characteristics of de novo mutations in autism.

Yuen RK et al.

Npj Genomic Medicine, 2016

27525107 (PubMed )
Supplement: npjgenmed201627-s3.xlsx › Table_S10
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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."