ArticleThe Journal of international medical research2026
A novel
Article in The Journal of international medical research, 2026. 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
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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
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.
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0 citing papers in PubMed.
No citing paper in PubMed yet.
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A female patient in her late 50s was admitted with sudden-onset speech impairment. Brain computed tomography identified multiple intracranial calcifications alongside an acute ischemic lesion in the left frontoparietal region. Whole-genome sequencing revealed a novel frameshift variant in the SLC20A2 gene (c.1089del, p.Ile363MetfsTer92), which is associated with primary brain calcification. The variant was also detected in the patient's son and eldest daughter. Both of them demonstrated multiple intracranial calcifications on computed tomography, whereas the second daughter tested negative for the variant and showed no radiologic evidence of calcification. According to the American College of Medical Genetics and Genomics guidelines, the variant was classified as likely pathogenic. This case report documents a novel loss-of-function variant in
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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.