ArticleIntractable & rare diseases research2025
Pathonign variants in recessive disorders: How extremely hypomorphic variants can be pathogenic and benign depending on the allele in trans.
Article in Intractable & rare diseases research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In recessive monogenic diseases, individuals with a single pathogenic variant are typically asymptomatic and symptomatic disease is only observed in patients with two pathogenic variants. Assuming that disease only occurs where protein concentrations or activity are below 50% of normal (since in recessive diseases, most carriers are asymptomatic) some hypomorphic variants could be deleterious in association with a LoF variant, but nevertheless yield > 50% protein activity/concentration when homozygous. These types of variants would be very weakly eliminated by natural selection, if at all, and thus their frequency in the population could increase by genetic drift. Thus the population frequency criterion often used to qualify variants as benign would be misleading. One such variant may be c.5603A>T (p.Asn1868Ile), in
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.