Varaico: Literature-Extracted Genetic Variants

Gene:TENM3
Variant:p.R520*
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TENM3

NM_001080477.4:p.R520*

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

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

Gholami Yarahmadi S et al.

Clinical Case Reports, 2022

Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.

Islam F et al.

Clinical Genetics, 2020

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