Evidence map›Paper›PMID 33298910›Full record

ArticleHuman genome variation2020

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.

Saba Ahmad, Luis Manon, Gifty Bhat, Jerry Machado, Alice Zalan, Nikolas Mata-Machado, Steven Garzon, Akira Yoshii

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

Article in Human genome variation, 2020. 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 80% 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

8 authors at 1 institution in 1 country.

Saba AhmadDepartment of Pediatrics, The Division of Pediatric Neurology, University of Illinois at Chicago, Chicago, IL, USA.
Luis ManonDepartment of Pathology, University of Illinois at Chicago, Chicago, IL, USA.
Gifty BhatDepartment of Pediatrics, The Division of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Jerry MachadoPrevention Genetics, Marshfield, WI, 54449, USA.
Alice ZalanDepartment of Pediatrics, The Division of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Nikolas Mata-MachadoDepartment of Pediatrics, The Division of Pediatric Neurology, University of Illinois at Chicago, Chicago, IL, USA.
Steven GarzonDepartment of Pathology, University of Illinois at Chicago, Chicago, IL, USA.
Akira YoshiiDepartment of Pediatrics, The Division of Pediatric Neurology, University of Illinois at Chicago, Chicago, IL, USA. ayoshii@uic.edu.ORCID http://orcid.org/0000-0001-8305-006X
University of Illinois Chicago · US

Funding

U.S. Department of Defense (United States Department of Defense) W81XWH-09-1-0088
6 · The paper itself

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

Identifiers

PMID33298910
PMCPMC7677537
OpenAlexW3107420600

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.