Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.R746C
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ADAMTSL4

NM_019032.6:p.R746C

Associated Papers

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.

Williams KM et al.

Clinical Genetics, 2025

Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.

Guo D et al.

The British Journal of Ophthalmology, 2023

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.

Musleh M et al.

Genes, 2023

Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.

Chen ZX et al.

Human Mutation, 2022

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Lenassi E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf

Autosomal Recessive ADAMTSL4-Related Isolated Ectopia Lentis in the Ohio Old Order Amish and Mennonite Communities.

Chiang T et al.

Journal of Vitreoretinal Diseases, 0

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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."