Evidence map›Paper›PMID 34602955›Full record

ArticleMolecular syndromology2021

Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the

Richard S Rodriguez, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Elison Sarapura-Castro, Mariela Torres-Loarte, Andrea Rivera-Valdivia, Yasser Sullcahuaman-Allende

Open access · bronzeAbstract read
In one paragraph

Article in Molecular syndromology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 2 pooled it
0.2field-weighted citation impact, top 47% 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, 2 syntheses or guidelines pooled it, 3 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  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

7 authors at 4 institutions in 2 countries.

Richard S RodriguezNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Mario Cornejo-OlivasNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Jeny Bazalar-MontoyaNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Elison Sarapura-CastroNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Mariela Torres-LoarteIGENOMICA, Instituto de Investigación Genómica, Lima, Peru.
Andrea Rivera-ValdiviaNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Yasser Sullcahuaman-AllendeEquipo funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
Universidad Peruana Cayetano Heredia · PEInstituto Nacional de Ciencias NeurológicasPeruvian University of Applied Sciences · PESeattle Pacific University · US

Funding

NPGH LEADERs YR12: OBSSR (Greenberg, Ngwafong Mukere) & NIBIB (Lee)D43TW009345 · FIC · UNIVERSITY OF WASHINGTON · PI Dibyadyuti Datta, Chandy C. John · 2017 to 2026
$15.2M
FIC NIH HHS D43 TW009345
6 · The paper itself

Abstract

Pathogenic and likely pathogenic variants in the

Indexed as

Ataxia-telangiectasiaATMc.3955_3958dupc.5825C>Trs1591646379rs730881394

Identifiers

PMID34602955
PMCPMC8436714
OpenAlexW3175965529

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.