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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A4

Variant:p.E988K

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COL4A4

NM_000092.5:p.E988K

hg38:chr2:227052311 C>T

Associated Papers

Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.

Lim TST et al.

Scientific Reports, 2025

40044766 (PubMed )

Supplement: 41598_2025_92520_MOESM1_ESM.docx

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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."