Evidence map›Paper›PMID 33364810›Full record

ArticleThe application of clinical genetics2020

A Novel Splice-Site Mutation in the

Camilo Andres Velandia-Piedrahita, Adrien Morel, Dora Janeth Fonseca-Mendoza, Victor Manuel Huertas-Quiñones, David Castillo, Juan Diego Bonilla, Camilo José Hernandez-Toro, Marta Catalina Miranda-Fernández, Carlos Martin Restrepo, Rodrigo Cabrera

Open access · goldAbstract readCase Reports
In one paragraph

Article in The application of clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 31% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

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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

10 authors at 5 institutions in 1 country.

Camilo Andres Velandia-PiedrahitaLaboratorio de Biología Molecular y Pruebas Diagnósticas de Alta Complejidad, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá, Colombia.ORCID 0000-0002-1747-2173
Adrien Morel *Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.ORCID 0000-0002-9654-6053
Dora Janeth Fonseca-Mendoza *Center for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.ORCID 0000-0002-7323-6570
Victor Manuel Huertas-QuiñonesInstituto de Cardiopatías Congénitas, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá, Colombia.ORCID 0000-0002-2552-9870
David CastilloServicio de Dermatología, Fundación Para la Investigación en Dermatología FUNINDERMA, Bogotá, Colombia.
Juan Diego BonillaServicio de Dermatología, Universidad El Bosque, Bogotá, Colombia.ORCID 0000-0001-8712-6551
Camilo José Hernandez-ToroLaboratorio de Biología Molecular y Pruebas Diagnósticas de Alta Complejidad, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá, Colombia.ORCID 0000-0003-1242-9018
Marta Catalina Miranda-FernándezLaboratorio de Biología Molecular y Pruebas Diagnósticas de Alta Complejidad, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá, Colombia.ORCID 0000-0002-6072-3863
Carlos Martin RestrepoCenter for Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.ORCID 0000-0001-6410-0084
Rodrigo CabreraLaboratorio de Biología Molecular y Pruebas Diagnósticas de Alta Complejidad, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá, Colombia.ORCID 0000-0002-5731-1788
Institute of Cardiology · COUniversidad del Rosario · COAsociación Colombiana de Dermatología y Cirugía Dermatológica · COUniversidad El Bosque · COUniversidad Nacional de Colombia · CO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The

Indexed as

ADCLcoacervationELNsplicingSVAS

Identifiers

PMID33364810
PMCPMC7751611
OpenAlexW3110730549

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.