Varaico: Literature-Extracted Genetic Variants

Gene:TMEM45A
Variant:p.R36*
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TMEM45A

NM_018004.3:p.R36*

Associated Papers

Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes.

Aspit L et al.

Journal of Pediatric Genetics, 2022

Association of Variants in TMEM45A With Keratoglobus.

Weiner C et al.

Jama Ophthalmology, 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."