Varaico: Literature-Extracted Genetic Variants

Gene:TPP2
Variant:p.A145fs
Back to variants list

TPP2

NM_001330588.2:p.A145fs

Associated Papers

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Atallah I et al.

Clinical Genetics, 2021

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.

Stepensky P et al.

Blood, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."