Varaico: Literature-Extracted Genetic Variants

Gene:KATNIP
Variant:p.S270Splc
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KATNIP

NM_015202.5:p.S270Splc

Associated Papers

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders.

Yamada M et al.

Molecular Genetics and Metabolism Reports, 2019

31687339 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table1
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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."