Evidence map›Paper›PMID 39062735›Full record

ArticleGenes2024

Rare Variants of the

Maria Akhkiamova, Aleksander Polyakov, Andrey Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. 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.

  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

12 authors.

Maria AkhkiamovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-7244-9654
Aleksander PolyakovResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Andrey MarakhonovResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Sergey VoroninResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Elena SaifullinaBashkir State Medical University, Lenin Str., 3, 450008 Ufa, Russia.
Zulfiia VafinaRepublic of Tatarstan Ministry of Healthcare Autonomous Public Healthcare, Institution Republic Clinical Hospital, Orenburgskiy Tract Str., 138, 420064 Kazan, Russia.
Kristina MichalchukResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-0394-7801
Svetlana BraslavskayaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Alena ChukhrovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Nina RyadninskayaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Sergey KutsevResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Olga ShchaginaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0003-4905-1303

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

During the expanded neonatal screening program conducted in 2023, we analyzed samples obtained from 1,227,130 out of 1,256,187 newborns in the Russian Federation in order to detect 5q spinal muscular atrophy (5q SMA). Within the 253-sample risk group formed based on the results of the first screening stage, 5 samples showed a discrepancy between the examination results obtained via various screening methods and quantitative MLPA (used as reference). The discrepancy between the results was caused by the presence of either a c.835-18C>T intronic variant or a c.842G>C p.(Arg281Thr) missense variant in the

Indexed as

Muscular Atrophy, SpinalNeonatal ScreeningSurvival of Motor Neuron 1 ProteinExonsFemaleHeterozygoteHumansInfant, NewbornMaleMutation, MissenseRussiaSMN1 protein, humanSurvival of Motor Neuron 1 Protein5q SMANBSspinal muscular atrophysplicingVUS

Identifiers

PMID39062735
PMCPMC11275604

What OpenQuestion holds

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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.