Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1015V
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COL4A5

NM_033380.3:p.G1015V

Associated Papers

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.

Baikara BT et al.

Plos One, 2015

Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.

Wang F et al.

Kidney International, 2005

[Proteins structure changes of COL4A5 gene point mutations and structure-phenotype relations in Alport syndrome].

Wang YF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004

Effect of glycine substitutions on alpha5(IV) chain structure and structure-phenotype correlations in Alport syndrome.

Wang YF et al.

Biochemical and Biophysical Research Communications, 2004

[Expression of the partial protein encoded by mutated COL4A5 gene and analysis of the structure by circular dichroism].

Wang YF et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2004

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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."