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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A4

Variant:p.G1030S

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COL4A4

NM_000092.5:p.G1030S

hg38:chr2:227051039 C>T

Associated Papers

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Liu JH et al.

Plos One, 2017

28542346 (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."