Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site.

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

Who cites it

4 citing papers in PubMed.

1. The implications of alternative pre-mRNA splicing in cell signal transduction.Experimental & molecular medicine · 2023
   Review
2. A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.Genes · 2020
   Article
3. Acquired and Innate Immunity Impairment and Severe DisseminatedFrontiers in immunology · 2018
   Article
4. Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.Frontiers in immunology · 2017
   Review

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

Authors and funding

6 authors.

Funding

Abstract

PubMed holds no abstract for this paper.

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