Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP5-5
Variant:p.C58_G61delFs
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KRTAP5-5

NM_001001480.3:p.C58_G61delFs

Associated Papers

Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.

Brzezinski J et al.

British Journal of Cancer, 2021

33012783 (PubMed )
Supplement: 41416_2020_1102_MOESM7_ESM.xlsx › Sheet1

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
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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."