Varaico: Literature-Extracted Genetic Variants

Gene:RSKR
Variant:p.K136_V137Splc
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RSKR

NM_001174103.2:p.K136_V137Splc

Associated Papers

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.

Oh RY et al.

Hgg Advances, 2024

38659227 (PubMed )
Supplement: mmc2.xlsx › FS_RNAseq_and_No_FS_SpliceAIExp

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
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