Varaico: Literature-Extracted Genetic Variants

Gene:B9D1
Variant:p.R114Splc
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B9D1

NM_015681.6:p.R114Splc

Associated Papers

Functional impact of splicing variants in the elaboration of complex traits in cattle.

Charles M et al.

Nature Communications, 2025

40274775 (PubMed )
Supplement: 41467_2025_58970_MOESM1_ESM.pdf

SpliceVault predicts the precise nature of variant-associated mis-splicing.

Dawes R et al.

Nature Genetics, 2023

36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › ES_RNA

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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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."