Evidence map›Paper›PMID 41898321›Full record

ArticleBiomedicines2026

A Novel Frameshift Mutation in

Eva Bagyinszky, Minju Kim, Young Ho Park, Danyeong Kim, Seong Soo A An, SangYun Kim

Abstract read
In one paragraph

Article in Biomedicines, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Eva BagyinszkyDepartment of Industrial and Environmental Engineering, Graduate School of Environment, Gachon University, Seongnam 13120, Republic of Korea.ORCID 0000-0002-0487-8668
Minju KimDepartment of Neurology, Chungbuk National University Hospital, Cheongju 28644, Republic of Korea.ORCID 0000-0003-0167-6611
Young Ho ParkDepartment of Neurology, Seoul National University College of Medicine & Clinical Neuroscience Center, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
Danyeong KimDepartment of Bionano Technology, Gachon Medical Research Institute, Gachon University, Seongnam 13120, Republic of Korea.ORCID 0000-0002-9346-5207
Seong Soo A AnDepartment of Bionano Technology, Gachon Medical Research Institute, Gachon University, Seongnam 13120, Republic of Korea.ORCID 0000-0002-8123-6183
SangYun KimDepartment of Neurology, Seoul National University College of Medicine & Clinical Neuroscience Center, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.ORCID 0000-0002-9101-5704

Funding

National Research Foundation of Korea RS-2021-NR060117National Research Foundation of Korea(NRF) 2021R1A6A1A03038996
6 · The paper itself

Abstract

objectivesThe patient presented various neurological symptoms in her 50s, such as memory issues, insomnia, depression, and motor impairment. Diverse investigations were performed to identify the underlying causes on her neurological symptoms and understand her neuro- deteriorations.

methodsClinical neurological and brain imaging analyses: CT, MRI and PET were performed on the patient. Blood was drawn for the whole-exome sequencing and functional studies with biomarker for amyloid-beta oligomers and SLC20A2 protein in plasma.

resultsBrain imaging revealed calcifications in multiple regions, including the subcortical white matter, basal ganglia, thalami, and dentate nuclei. Genetic analysis revealed a c.1152_1153delCA, p.Asn384Lysfs*30 variant in

conclusionsA novel frameshift mutation, Asn384Lysfs*30, in the

Indexed as

calcificationscognitionhaploinsufficiency primary brain calcificationmotor impairmentSLC20A2

Identifiers

PMID41898321
PMCPMC13023793

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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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 Socratic graph.