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Article

An ITPA Enzyme with Improved Substrate Selectivity.

The protein journal - 1 Feb 2024

Burgis Nicholas E, VanWormer Kandise, Robbins Devin, Smith Jonathan

Abstract excerpt

Recent clinical data have identified infant patients with lethal ITPA deficiencies. ITPA is known to modulate ITP concentrations in cells and has a critical function in neural development which is not understood. Polymorphism of the ITPA gene affects outcomes for both ribavirin and thiopurine based therapies and nearly one third of the human population is thought to harbor ITPA polymorphism. In a previous...

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Identifiers

PMID: 38066288
DOI: 10.1007/s10930-023-10162-0
PMCID: PMC10901923

Genes

ITPA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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