Varaico: Literature-Extracted Genetic Variants

Gene:TENM3
Variant:p.V990fs
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TENM3

NM_001080477.4:p.V990fs

Associated Papers

Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases.

Lu F et al.

Frontiers in Pediatrics, 2023

Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.

Zhou Y et al.

Molecular Genetics & Genomic Medicine, 2022

Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.

Gholami Yarahmadi S et al.

Clinical Case Reports, 2022

Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.

Singh B et al.

European Journal of Medical Genetics, 2019

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.

Stephen J et al.

American Journal of Medical Genetics. Part A, 2018

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Richardson R et al.

European Journal of Human Genetics : Ejhg, 2017

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

Chassaing N et al.

American Journal of Medical Genetics. Part A, 2016

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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."