Evidence map›Paper›PMID 36348959›Full record

ArticleGene reports2022

Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19.

Alessia Azzarà, Ilaria Cassano, Maria Cristina Tirindelli, Carolina Nobile, Valentina Schittone, Elisa Paccagnella, Carla Lintas, Fiorella Gurrieri

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Gene reports, 2022. 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, top 84% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

  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

8 authors at 3 institutions in 1 country.

Alessia AzzaràResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.
Ilaria CassanoResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.
Maria Cristina TirindelliTransfusion Medicine and Cellular Therapy Unit, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.
Carolina NobileTransfusion Medicine and Cellular Therapy Unit, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.
Valentina SchittoneHematology and Stem Cell Transplant Unit, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.
Elisa PaccagnellaResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.
Carla LintasResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.
Fiorella GurrieriResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.
Campus Bio Medico University Hospital · ITUniversità Campus Bio-Medico · ITUniversità Cattolica del Sacro Cuore · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

COVID-19 may be considered a multifactorial disease caused by the interaction between the virus itself, as the environmental contribute, and the genetic background of the host. SARS-CoV-2 infection occurs through the interaction between the spike protein and ACE2, a receptor in the host cells. Clinically, COVID-19 is characterized by a high heterogeneity in symptomatology ranging from asymptomatic to severe symptoms, and even worsening to death. This variability relies on the host genomic profile and other individual comorbidities. We performed exome analysis in one family displaying a variable spectrum of SARS-CoV-2 infection despite a common exposure. After segregation analysis, we found that the c.446C>T p.(S149L) in

Indexed as

COVID-19Renin-angiotensin systemSARS-CoV-2Whole exome sequencing

Identifiers

PMID36348959
PMCPMC9633625
OpenAlexW4308374810

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.