Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.P422_P428del7
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COL4A5

NM_033380.3:p.P422_P428del7

Associated Papers

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review.

Gong WY et al.

Biomed Research International, 2021

Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1.

Liu L et al.

Annals of Clinical and Laboratory Science, 2018

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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."