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Article

Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn's Disease.

Journal of Crohn's & colitis - 2 Aug 2021

Chang Iksoo, Park Seongjun, Lee Hye-Jin, Kim Inki, Park Sojung, Ahn Mi Kyoung, Lee Juhwan, Kang Mooseok, Baek In-Jeoung, Sung Young Hoon, Pack Chan-Gi, Kang Hyo-Jeong, Lee Kunsong, Im Ho Joon, Seo Eul Ju, Kim Kyung Mo, Yang Suk-Kyun, Song Kyuyoung, Oh Seak Hee

Abstract excerpt

BACKGROUND AND AIMS: Mutations in XIAP can lead to the development of treatment-refractory severe paediatric Crohn's disease [CD], for which haematopoietic stem cell transplantation is the primary therapeutic option. The interpretation of variants of uncertain significance [VUSs] in XIAP needs to be scrutinized. METHODS: Targeted next-generation sequencing was performed for 33 male paediatric patients with...

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PMID: 33460440
DOI: 10.1093/ecco-jcc/jjab013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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