Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.P608S
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COL4A5

NM_033380.3:p.P608S

Associated Papers

Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.

Chin E et al.

Human Genetics, 2009

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

Eggermann T

Human Genetics, 2009

Novel human pathological mutations. Gene symbol: F9. Disease: Haemophilia B.

Niazi G et al.

Human Genetics, 2009

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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."