Evidence map›Paper›PMID 41030265›Full record

ArticleFrontiers in medicine2025

Implications of the c.1201C > G (p.Arg401Gly) mutation in

Jingyi Lu, Zeyi Xiang, Yonglong Ye, Wei Chen, Jieyi Tan, Bin Kuang, Jun Liu

Abstract read
In one paragraph

Article in Frontiers in medicine, 2025. 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

7 authors.

Jingyi LuDepartment of Laboratory Medicine, Dongguan Hospital of Guangzhou University of Chinese Medicine, Dongguan, China.
Zeyi XiangDepartment of Nephrology, Dongguan Hospital of Guangzhou University of Chinese Medicine, Dongguan, China.
Yonglong YeDepartment of Laboratory Medicine, Dongguan Hospital of Guangzhou University of Chinese Medicine, Dongguan, China.
Wei ChenDepartment of Laboratory Medicine, Dongguan Hospital of Guangzhou University of Chinese Medicine, Dongguan, China.
Jieyi TanDepartment of Laboratory Medicine, Dongguan Hospital of Guangzhou University of Chinese Medicine, Dongguan, China.
Bin KuangDepartment of Nephrology, Dongguan Hospital of Guangzhou University of Chinese Medicine, Dongguan, China.
Jun LiuDepartment of Laboratory Medicine, Dongguan Hospital of Guangzhou University of Chinese Medicine, Dongguan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital dysfibrinogenemia, a rare coagulation disorder characterized by decreased fibrinogen activity while antigen level is usually normal. We conducted a study on a three-generation family comprising 15 members, among whom three individuals were diagnosed with this condition. This study aimed to elucidate the genetic and structural basis of dysfibrinogenemia in this family. Coagulation assays revealed significantly reduced fibrinogen levels in the proband, his father, and his son, with mild prolongation of PT and TT. Despite normal liver and kidney function, recurrent nosebleeds were reported in the proband and his son. Whole-exome sequencing identified a novel variant (c.1201C > G, p.Arg401Gly) in the

Indexed as

c.1201C > G mutationcongenital dysfibrinogenemiaFGGfibrinogensanger sequencing

Identifiers

PMID41030265
PMCPMC12477214

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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.