Evidence map›Paper›PMID 40225150›Full record

ArticleHuman mutation2023

Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in

V Manjunath, S G Thenral, B R Lakshmi, Atchayaram Nalini, A Bassi, K Priya Karthikeyan, K Piyusha, R Menon, A Malhotra, L S Praveena and 13 more

Abstract read
In one paragraph

Article in Human mutation, 2023. 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

23 authors.

V ManjunathMedGenome Labs Pvt. Ltd., Bangalore, India.
S G ThenralMedGenome Labs Pvt. Ltd., Bangalore, India.
B R LakshmiMolecular Diagnostics Counseling Care and Research Centre (MDCRC), Coimbatore, Tamil Nadu, India.
Atchayaram NaliniNational Institute of Mental Health and Neurosciences, Bangalore, India.
A BassiMedGenome Labs Pvt. Ltd., Bangalore, India.ORCID 0000-0002-4443-1430
K Priya KarthikeyanMolecular Diagnostics Counseling Care and Research Centre (MDCRC), Coimbatore, Tamil Nadu, India.
K PiyushaMedGenome Labs Pvt. Ltd., Bangalore, India.
R MenonMedGenome Labs Pvt. Ltd., Bangalore, India.
A MalhotraMedGenome Labs Pvt. Ltd., Bangalore, India.
L S PraveenaMedGenome Labs Pvt. Ltd., Bangalore, India.
R M AnjanappaMedGenome Labs Pvt. Ltd., Bangalore, India.
S M Sakthivel MuruganMedGenome Labs Pvt. Ltd., Bangalore, India.
Kiran PolavarapuNational Institute of Mental Health and Neurosciences, Bangalore, India.
Mainak BardhanNational Institute of Mental Health and Neurosciences, Bangalore, India.ORCID 0000-0002-4106-409X
V Preethish-KumarNational Institute of Mental Health and Neurosciences, Bangalore, India.
Seena VengalilNational Institute of Mental Health and Neurosciences, Bangalore, India.
Saraswati NashiNational Institute of Mental Health and Neurosciences, Bangalore, India.
S SangaNational Institute of Biomedical Genomics, Kolkata, India.ORCID 0000-0001-5843-5902
M AcharyaNational Institute of Biomedical Genomics, Kolkata, India.
R RajuYenepoya Medical College, Yenepoya (Deemed to be University), Deralakatte, Mangalore, India.
V R PaiYenepoya Medical College, Yenepoya (Deemed to be University), Deralakatte, Mangalore, India.ORCID 0000-0003-0893-3369
V L RamprasadMedGenome Labs Pvt. Ltd., Bangalore, India.ORCID 0000-0002-0379-6054
R GuptaMedGenome Labs Pvt. Ltd., Bangalore, India.ORCID 0000-0001-6086-2612

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The sarcoglycanopathies are autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding the

Indexed as

HomozygoteMuscular Dystrophies, Limb-GirdleSarcoglycansAdolescentAdultAllelesChildChild, PreschoolFemaleGenetic Association StudiesHumansIndiaMaleMutationPhenotypeSarcoglycanopathiesSarcoglycansSGCB protein, human

Identifiers

PMID40225150
PMCPMC11918903

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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.