Evidence map›Paper›PMID 36909564›Full record

ArticleResearch square2023

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia.

Roni Zemet, Haowei Du, Tomasz Gambin, James R Lupski, Pengfei Liu, Paweł Stankiewicz

Open access · greenFull text readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 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
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

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 2 countries.

Roni ZemetDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Haowei DuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Tomasz GambinInstitute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Pengfei LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Paweł StankiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.ORCID 0000-0002-6456-7490
Baylor College of Medicine · USWarsaw University of Technology · PL

Funding

STRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · 2022 to 2025
$3.5M
MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · 1985 to 2025
$3.1M
NICHD NIH HHS R01 HD087292NIGMS NIH HHS T32 GM007526NINDS NIH HHS R35 NS105078
6 · The paper itself

Abstract

We previously reported a fetus with Fanconi anemia (FA), complementation group O due to compound heterozygous variants involving

Identifiers

PMID36909564
PMCPMC10002829
OpenAlexW4322768848

What Socratic holds

Textfull text, public
LicenceCC BY
measurements read31
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 Socratic graph.