Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G498R
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COL4A1

NM_001845.6:p.G498R

Associated Papers

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.

Plaisier E et al.

American Journal of Medical Genetics. Part A, 2010

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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."