Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G406S
Back to variants list

COL4A5

NM_033380.3:p.G406S

Associated Papers

Combined Alport syndrome, Klinefelter syndrome and Fanconi syndrome in a Chinese boy.

Zhang H et al.

Nephrology (carlton, Vic.), 2023

[Clinical and pathological features and the misdiagnosis of childhood Alport syndrome: a retrospective analysis of 91 cases].

Chen YZ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017

A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma.

Rotondi M et al.

Journal of Andrology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."