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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A5

Variant:p.P414_I418del5

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COL4A5

NM_033380.3:p.P414_I418del5

hg38:chrX:108591131 ACCTGGAATTTCCATT>A

Associated Papers

Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis.

Peng D et al.

Medicine, 2019

31577731 (PubMed )

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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."