ArticleFrontiers in genetics2018
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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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1 citing paper in PubMed, 6 citations in OpenAlex.
- Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.Italian journal of pediatrics · 2020Article
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Authors and funding
22 authors at 7 institutions in 5 countries.
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Abstract
Only a few genes involved in teeth development and morphology are known to be responsible for tooth abnormalities in Mendelian-inherited diseases. We studied an inbred family of Pakistani origin in which two first-cousin born brothers are affected by early tooth loss with peculiar teeth abnormalities characterized by the absence of cementum formation. Whole exome sequencing revealed a H2665L homozygous sequence variant in the
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