Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.E448*
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ERCC4

NM_005236.3:p.E448*

Associated Papers

A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report.

Mansouri N et al.

Iranian Journal of Medical Sciences, 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."