Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.H52R
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EGF

NM_001963.6:p.H52R

Associated Papers

TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

Chacon-Camacho OF et al.

American Journal of Medical Genetics. Part A, 2024

Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma.

Qiao Y et al.

Frontiers in Genetics, 2021

34956319 (PubMed )
Supplement: DataSheet1.docx
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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."