Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.P576_G577Splc
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COL4A1

NM_001845.6:p.P576_G577Splc

Associated Papers

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay.

Wang Z et al.

Clinical Genetics, 2024

Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders.

George E et al.

Pediatric Neurology, 2023

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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."