ArticleGenes2021
Novel Homozygous Inactivating Mutation in the
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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
11 citing papers in PubMed, 18 citations in OpenAlex.
- Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea.JPGN reports · 2026Article
- Rare Presentation of Heterozygous PCSK1 Deficiency in an Adolescent Male.Case reports in pediatrics · 2026Article
- Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.Clinical genetics · 2025Article
- Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.NPJ genomic medicine · 2024Article
- A comprehensive review of genetic causes of obesity.World journal of pediatrics : WJP · 2024Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Rare HeterozygousGenes · 2022Review
- Saponins fromNutrients · 2022Article
- The G209R mutant mouse as a model for human PCSK1 polyendocrinopathy.Endocrinology · 2022Article
- Modulation of PC1/3 activity by a rare double-site homozygous mutation.Frontiers in pediatrics · 2022Article
- Obesity, POMC, and POMC-processing Enzymes: Surprising Results From Animal Models.Endocrinology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
Abstract
Proprotein convertase 1/3 (PC1/3), encoded by the
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.