Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.D278N
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SIX5

NM_175875.5:p.D278N

Associated Papers

Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.

Zhou Z et al.

Biomedical Reports, 2025

40322553 (PubMed )
Supplement: Supplementary_Data3.xlsx › Table_S2

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.

Li J et al.

Heliyon, 2024

39640791 (PubMed )
Supplement: mmc1.xlsx › Unsolved__patients

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

Liu JL et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022

36549658 (PubMed )
Supplement: gfac338_supplemental_file.pdf
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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."