Functional Analysis of Complex Structural and Splice-Altering Variants in the
Igor Bychkov, Alexandra Filatova, Galina Baydakova, Nataliya Sikora, Emiliya Garifullina, Anna Bykova, Vyacheslav Tabakov, Alexandr Skretnev, Mikhail Skoblov, Ekaterina Zakharova
Article in Human mutation, 2025. 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.
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.
Igor BychkovDepartment of Molecular Mechanisms of Inherited Metabolic Disorders, Research Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-6594-6126
Alexandra FilatovaDepartment of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia.
Galina BaydakovaDepartment of Molecular Mechanisms of Inherited Metabolic Disorders, Research Centre for Medical Genetics, Moscow, Russia.
Nataliya SikoraDepartment of Medical Genetic Consultation, Perinatal Center Named After Professor G.S. Postol, Khabarovsk, Russia.
Emiliya GarifullinaDepartment of Medical Genetic Consultation, Republican Medical Genetics Center, Ufa, Russia.
Anna BykovaDepartment of Medical Genetic Consultation, Arkhangelsk Regional Children's Clinical Hospital Named After P.G. Vyzhletsov, Arkhangelsk, Russia.
Vyacheslav TabakovDepartment of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia.
Alexandr SkretnevChildren's Psychoneurological Department, Children's Regional Clinical Hospital Named After A.K. Piotrovich, Khabarovsk, Russia.
Mikhail SkoblovDepartment of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia.
Ekaterina ZakharovaDepartment of Molecular Mechanisms of Inherited Metabolic Disorders, Research Centre for Medical Genetics, Moscow, Russia.
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Mucopolysaccharidosis Type VI (MPS VI) is a lysosomal storage disorder associated with biallelic pathogenic variants in the
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.
Functional Analysis of Complex Structural and Splice-Altering Variants in the · full record | OpenQuestion