Evidence map›Paper›PMID 37456470›Full record

ArticleCureus2023

In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population.

Vykuntaraju K Nanjundagowda, Swabhiman Paikaraya, Varunvenkat M Srinivasan, Anshika Srivastava

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

Article in Cureus, 2023. 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, top 75% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

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

4 authors at 1 institution in 1 country.

Vykuntaraju K NanjundagowdaPediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, IND.
Swabhiman PaikarayaDivision of Medicinal and Process Chemistry, Council of Scientific and Industrial research-Central Drug Research Institute (CSIR-CDRI), Lucknow, IND.
Varunvenkat M SrinivasanMedical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IND.
Anshika SrivastavaMedical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IND.
Sanjay Gandhi Post Graduate Institute of Medical Sciences · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background Aicardi-Goutieres syndrome (AGS) is a genetic disorder that has variable manifestations including neurological, immunological, and sometimes other system involvement in various combinations. Considering the high genetic and clinical diversity of AGS and the importance of RNASEH2 complex in the biological system, it is important to take a systematic approach to delineate the genetic diagnosis and impact of missense mutations. Methods Clinical targeted gene sequencing followed by Sanger validation was performed in an individual with the clinical features of AGS. Protein modeling studies of all the reported

Indexed as

aicardi-goutieres syndromeindiaprotein modelingrnaseh2a genesplicing variant

Identifiers

PMID37456470
PMCPMC10340131
OpenAlexW4380632605

What OpenQuestion holds

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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.