Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.K298_H300del3
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ZEB2

NM_014795.4:p.K298_H300del3

Associated Papers

Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.

Jiang Y et al.

Journal of Translational Medicine, 2024

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH et al.

Genome Medicine, 2017

29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
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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."