ArticleHuman genome variation2020
A novel nonsense mutation of
Article in Human genome variation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.Human genomics · 2024Pooled it
- Male Goltz Syndrome due to PostzygoticCase reports in dermatological medicine · 2026Article
- Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.Frontiers in genetics · 2023Article
- Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum.Intractable & rare diseases research · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by
Indexed as
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.