Evidence map›Paper›PMID 35698621›Full record

ArticlePharmacogenomics and personalized medicine2022

Compound Heterozygous Mutations in

Jing Zeng, Baihui Shan, Lu Guo, Sha Lv, Fuqiu Li

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Pharmacogenomics and personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 44% of its field
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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Identification andMedicina (Kaunas, Lithuania) · 2023
    Article
  3. Article
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

5 authors at 1 institution in 1 country.

Jing ZengDepartment of Dermatology, the Second Hospital of Jilin University, Changchun, People's Republic of China.ORCID 0000-0001-5548-4055
Baihui ShanDepartment of Dermatology, the Second Hospital of Jilin University, Changchun, People's Republic of China.
Lu GuoDepartment of Dermatology, the Second Hospital of Jilin University, Changchun, People's Republic of China.
Sha LvDepartment of Dermatology, the Second Hospital of Jilin University, Changchun, People's Republic of China.
Fuqiu LiDepartment of Dermatology, the Second Hospital of Jilin University, Changchun, People's Republic of China.ORCID 0000-0002-2175-5782
Second Affiliated Hospital of Jilin University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We aimed to detect the pathogenic gene mutations in a patient with lamellar ichthyosis (LI). The genomic DNA of the patient was examined using high-throughput whole-exome sequencing to identify the causative mutations. Compound heterozygous mutations of c.1187G>T (p.Arg396Leu) and c.607C>T (p.Gln203*) were found in the transglutaminase-1 gene (

Indexed as

autosomal-recessive congenital ichthyosislamellar ichthyosisTGM1whole-exome sequencing

Identifiers

PMID35698621
PMCPMC9188366
OpenAlexW4281671076

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.