ArticleFrontiers in genetics2021
High-Frequency Exon Deletion of DNA Cross-Link Repair 1C Accounting for Severe Combined Immunodeficiency May Be Missed by Whole-Exome Sequencing.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 6 citations in OpenAlex.
- Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China.Human genetics · 2026Article
- Kyphoscoliotic Ehlers-Danlos syndrome due to a novel homozygous PLOD1 variant: severe vascular involvement and molecular diagnosis.BMC medical genomics · 2026Article
- Clinical and genetic landscape of SCID in Yunnan, China: identification of two novel RAG2 variants.Scientific reports · 2026Article
- Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3.Human genomics · 2025Article
- A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.Immunogenetics · 2024Article
- A novel splice donor mutation inFrontiers in oncology · 2023Article
- Case report: Rubella virus-induced cutaneous granulomas in a girl with atypical SCID caused byFrontiers in genetics · 2023Article
- The Role of Zinc in the T-Cell Metabolism in Infection Requires Further Investigation - An Opinion.Frontiers in immunology · 2022Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing (NGS) has been used to detect severe combined immunodeficiency (SCID) in patients, and some patients with DNA cross-link repair 1C (
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Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.