Evidence map›Paper›PMID 32843428›Full record

ArticleCold Spring Harbor molecular case studies2020

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.

Erica L Macke, Joel A Morales-Rosado, Aditi Gupta, Christopher T Schmitz, Teresa Kruisselbrink, Brendan Lanpher, Eric W Klee

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

Article in Cold Spring Harbor molecular case studies, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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 1 institution in 1 country.

Erica L MackeCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.ORCID 0000-0001-8324-506X
Joel A Morales-RosadoCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.ORCID 0000-0002-7710-2211
Aditi GuptaCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Christopher T SchmitzCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Teresa KruisselbrinkDepartment of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA.
Brendan LanpherCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Eric W KleeCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Mayo Clinic · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in the XPC complex subunit, DNA damage recognition, and repair factor (

Indexed as

AdultCutaneous Malignant MelanomaDNA-Binding ProteinsDNA DamageDNA RepairExome SequencingExonsFemaleHumansMelanomaMutation, MissenseNeoplasm Recurrence, LocalSkinSkin NeoplasmsUltraviolet RaysXeroderma PigmentosumDNA-Binding ProteinsXPC protein, humanbasal cell carcinomadiffuse telangiectasiahypopigmentation of the skinnumerous pigmented frecklessquamous cell carcinoma of the skinsuperficial spreading melanoma

Identifiers

PMID32843428
PMCPMC7476405
OpenAlexW3081234407

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.