Evidence map›Paper›PMID 39209822›Full record

ArticleHuman genome variation2024

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.

Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, NCBN Controls WGS Consortium, Yoshihisa Yamano

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

9 authors.

Takeshi ImaiDepartment of Neurology, St Marianna University School of Medicine, Kawasaki, Kanagawa, Japan. t2imai@marianna-u.ac.jp.ORCID http://orcid.org/0000-0001-9905-820X
Satomi MitsuhashiDepartment of Neurology, St Marianna University School of Medicine, Kawasaki, Kanagawa, Japan.
Kenji IsahayaDepartment of Neurology, St Marianna University School of Medicine, Kawasaki, Kanagawa, Japan.
Soichiro ShibataDepartment of Neurology, St Marianna University School of Medicine, Kawasaki, Kanagawa, Japan.
Yosuke KawaiGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0003-0666-1224
Yosuke OmaeGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
Katsushi TokunagaGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
NCBN Controls WGS Consortium
Yoshihisa YamanoDepartment of Neurology, St Marianna University School of Medicine, Kawasaki, Kanagawa, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) and a known FLNC pathogenic variant. Our results highlight the usefulness of WGS, even in the diagnosis of well-characterized genetic diseases such as WD.

Identifiers

PMID39209822
PMCPMC11362149

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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 OpenQuestion graph.