Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS15
Variant:p.Q261*
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TMPRSS15

NM_002772.3:p.Q261*

Associated Papers

Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica.

Chen Y et al.

Pediatric Dermatology, 2023

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency.

Wang L et al.

Frontiers in Genetics, 2020

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

Holzinger A et al.

American Journal of Human Genetics, 2002

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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."