ArticleFrontiers in genetics2021
Oligogenic Inheritance of Monoallelic
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Multiple golgins are required to support extracellular matrix secretion, modification, and assembly.The Journal of cell biology · 2025Article
- Faster and more accurate pathogenic combination predictions with VarCoPP2.0.BMC bioinformatics · 2023Article
- Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.Database : the journal of biological databases and curation · 2022Article
- Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.Journal of personalized medicine · 2022Review
- Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.Frontiers in genetics · 2021Article
- Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Skeletal dysplasias are often well characterized, and only a minority of the cases remain unsolved after a thorough analysis of pathogenic variants in over 400 genes that are presently known to cause monogenic skeletal diseases. Here, we describe an 11-year-old Finnish girl, born to unrelated healthy parents, who had severe short stature and a phenotype similar to odontochondrodysplasia (ODCD), a monogenic skeletal dysplasia caused by biallelic
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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.