Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.A841V
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TEK

NM_000459.5:p.A841V

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

Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.

Chen SH et al.

Cancer Medicine, 2024

38895905 (PubMed )
Supplement: CAM4-13-e7384-s003.xlsx › Sheet1

Exploring the Genetic Landscape of Childhood Glaucoma.

Pan Y et al.

Children (basel, Switzerland), 2024

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.

Harvey DC et al.

Frontiers in Cardiovascular Medicine, 2023

37840956 (PubMed )
Supplement: Table1.xlsx › Supp_Table_1

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

Qiao Y et al.

Frontiers in Genetics, 2021

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.

Young TL et al.

Investigative Ophthalmology & Visual Science, 2020

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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."