Varaico: Literature-Extracted Genetic Variants

Gene:TMEM54
Variant:p.G192_H197delFs
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TMEM54

NM_033504.4:p.G192_H197delFs

Associated Papers

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Nicastro M et al.

American Journal of Human Genetics, 2025

40409267 (PubMed )
Supplement: mmc2.xlsx › S5

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_16
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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."