Varaico: Literature-Extracted Genetic Variants

Gene:SRPK3
Variant:p.L258_Q259Splc
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SRPK3

NM_014370.4:p.L258_Q259Splc

Associated Papers

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Töpf A et al.

Nature Genetics, 2024

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 › Ours_RNA
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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."