Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.L2L
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EGF

NM_001963.6:p.L2L

Associated Papers

Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene.

Happi Mbakam C et al.

Molecular Therapy. Nucleic Acids, 2022

Quantitative genomics of 30 complex phenotypes in Wagyu x Angus F₁ progeny.

Zhang L et al.

International Journal of Biological Sciences, 2012

Analysis of the EFEMP1 gene in individuals and families with early onset drusen.

Narendran N et al.

Eye (london, England), 2005

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

Klamt B et al.

Human Molecular Genetics, 1998

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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."