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Article

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.

Journal of clinical immunology - 1 Jul 2020

Okano Tsubasa, Imai Kohsuke, Naruto Takuya, Okada Satoshi, Yamashita Motoi, Yeh Tzu-Wen, Ono Shintaro, Tanaka Keisuke, Okamoto Keisuke, Tanita Kay, Matsumoto Kazuaki, Toyofuku Etsushi, Kumaki-Matsumoto Eri, Okamura Miko, Ueno Hiroo, Ogawa Seishi, Ohara Osamu, Takagi Masatoshi, Kanegane Hirokazu, Morio Tomohiro

Abstract excerpt

PURPOSE: Owing to recent technological advancements, using next-generation sequencing (NGS) and the accumulation of clinical experiences worldwide, more than 420 genes associated with inborn errors of immunity (IEI) have been identified, which exhibit large genotypic and phenotypic variations. Consequently, NGS-based comprehensive genetic analysis, including whole-exome sequencing (WES), have become more valuable...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32506361
DOI: 10.1007/s10875-020-00798-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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