Evidence map›Paper›PMID 42861107›Full record

ArticleMolecular genetics and metabolism reports2026

Clinical and molecular findings in two siblings with neuroblastoma-amplified sequence (NBAS) deficiency corroborates a more severe phenotype for compound-heterozygous truncating and splice variants in

Michael Schlotterbek, Ute Grasshoff, Sarah Baumann, Christoph Kernstock, Ludger Schöls, Tobias B Haack, Lena Zeltner

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2026. 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.

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

7 authors.

Michael SchlotterbekInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Ute GrasshoffInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Sarah BaumannInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Christoph KernstockUniversity Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
Ludger SchölsDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tuebingen, Tuebingen, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Lena ZeltnerDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tuebingen, Tuebingen, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID42861107
PMCPMC13653997

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.