ArticleAmerican journal of human genetics1996
Defects in RNA splicing and the consequence of shortened translational reading frames.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 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
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Who cites it
68 citing papers in PubMed.
- mRNA Transcript Variants Expressed in Mammalian Cells.International journal of molecular sciences · 2025Review
- Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to humanFrontiers in molecular biosciences · 2023Article
- Rb Tumor Suppressor in Small Cell Lung Cancer: Combined Genomic and IHC Analysis with a Description of a Distinct Rb-Proficient Subset.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.International journal of molecular sciences · 2021Article
- Article
- Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report.BMC medical genetics · 2019Article
- Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.Journal of genetics · 2017Article
- Activity and expression of ADP-glucose pyrophosphorylase during rhizome formation in lotus (Nelumbo nucifera Gaertn.).Botanical studies · 2016Article
- Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Oncotarget · 2016Article
- Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.Molecular genetics and metabolism reports · 2014Article
- Franklin H. Epstein Lecture. Both ends of the leash--the human links to good dogs with bad genes.The New England journal of medicine · 2012Article
- A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.American journal of human genetics · 2009Article
- Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.The Journal of investigative dermatology · 2009Article
- Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.Journal of dermatological science · 2009Article
- Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin.Journal of dermatological science · 2007Article
- A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.Human genetics · 2007Article
- A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.Human genetics · 2005Article
- Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.Journal of human genetics · 2004Article
- The apolipoprotein B mRNA editing complex performs a multifunctional cycle and suppresses nonsense-mediated decay.The EMBO journal · 2003Article
- Molecular characterization of homozygous hereditary factor I deficiency.Clinical and experimental immunology · 2003Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
1 author.
Funding
Abstract
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Indexed as
Identifiers
8755945PMC1914736What 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.