Varaico: Literature-Extracted Genetic Variants

Gene:TMEM67
Variant:p.G341R
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TMEM67

NM_153704.6:p.G341R

Associated Papers

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.

Kunisetty B et al.

Investigative Ophthalmology & Visual Science, 2024

38502138 (PubMed )
Supplement: iovs-65-3-25_s002.xlsx › Sheet1

Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.

Bekheirnia N et al.

Kidney360, 2021

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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."