Functional Validation of a Novel Homozygous

Xiaoyun Sun, Dandan Wang, Shujuan Wang, Rong Wan, Zhenhong Jiang, Wenqiang Zhang, Jin Ouyang, Yang Shen, Kui Hong

Abstract readCase Reports

In one paragraph

Article in Human mutation, 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

9 authors.

Xiaoyun SunDepartment of Medical Genetics, The Second Affiliated Hospital of Nanchang University, Nanchang, China, jxndefy.cn.ORCID https://orcid.org/0009-0007-6087-1552

Dandan WangDepartment of Cardiovascular Medicine, The Second Affiliated Hospital of Nanchang University, Nanchang, China, jxndefy.cn.

Shujuan WangDepartment of Medical Genetics, The Second Affiliated Hospital of Nanchang University, Nanchang, China, jxndefy.cn.

Rong WanJiangxi Province Key Laboratory of Molecular Medicine, The Second Affiliated Hospital of Nanchang University, Nanchang, China, jxndefy.cn.ORCID https://orcid.org/0000-0001-9330-4924

Zhenhong JiangDepartment of Medical Genetics, The Second Affiliated Hospital of Nanchang University, Nanchang, China, jxndefy.cn.ORCID https://orcid.org/0000-0002-8807-0681

Wenqiang ZhangJiangxi Province Key Laboratory of Molecular Medicine, The Second Affiliated Hospital of Nanchang University, Nanchang, China, jxndefy.cn.ORCID https://orcid.org/0000-0002-0317-3914

Jin OuyangJiangxi Province Key Laboratory of Molecular Medicine, The Second Affiliated Hospital of Nanchang University, Nanchang, China, jxndefy.cn.

Yang ShenDepartment of Medical Genetics, The Second Affiliated Hospital of Nanchang University, Nanchang, China, jxndefy.cn.ORCID https://orcid.org/0000-0002-3185-2404

Kui HongDepartment of Medical Genetics, The Second Affiliated Hospital of Nanchang University, Nanchang, China, jxndefy.cn.ORCID https://orcid.org/0000-0001-9416-0862

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The

Indexed as

Cardiomyopathy, HypertrophicConnectinHomozygoteRNA Splice SitesRNA SplicingAdultExome SequencingHumansMaleMutationPedigreePhenotypeConnectinRNA Splice SitesTTN protein, humangenetic testinghypertrophic cardiomyopathyTTNvariant interpretation

Identifiers

PMID42698999

DOI10.1155/humu/4229370

PMCPMC13542574

What OpenQuestion holds

Textmetadata

Read underepoch 390

Registered trials

None linked

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.