A recurrent

Tehmeena Akhter, Sami Khan, Ahmed Abdul Mumeen, Muhammad Asif Naeem, Sheikh Riazuddin, Saima Riazuddin

Abstract read

In one paragraph

Article in Biochemistry and biophysics 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

6 authors.

Tehmeena AkhterDepartment of Otorhinolaryngology-Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

Sami KhanDepartment of Biochemistry, Vassar College, Poughkeepsie, NY, USA.

Ahmed Abdul MumeenDepartment of Biochemistry, Vassar College, Poughkeepsie, NY, USA.

Muhammad Asif NaeemCenter of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.

Sheikh RiazuddinJinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical Research, University of Health Sciences, Lahore, Pakistan.

Saima RiazuddinDepartment of Otorhinolaryngology-Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

Funding

Genetics and Functional Studies of Autosomal Recessive Neurological DisordersR01NS107428 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI Saima Riazuddin · 2018 to 2026

$4.7M

NINDS NIH HHS R01 NS107428

6 · The paper itself

Abstract

Background: Intellectual disabilities (IDs) are part of neurodevelopmental disorders (NDDs) and are genetically heterogeneous conditions characterized by impairments in cognition, learning, and adaptive functioning. Despite advances in gene discovery, many individuals, particularly those from understudied populations, remain without a molecular diagnosis. Recent reports implicate Methods: Exome sequencing (ES) was performed in a consanguineous Pakistani family (PKMR06A) with four affected individuals presenting with moderate to severe ID. Variant segregation was confirmed by Sanger sequencing. Results: Clinically, affected individuals of family PKMR06A presented with early childhood global developmental delay, speech delay, hypotonia, gait abnormalities, spasticity, and mild facial dysmorphism. Genetic screening revealed a recurrent rare homozygous frameshift variant in Conclusions: This study expands the mutational landscape of

Indexed as

Autosomal recessiveCCDC82Exome sequencingIntellectual disabilitiesNeurodevelopmental disorderSpasticity

Identifiers

PMID42732216

DOI10.1016/j.bbrep.2026.102764

PMCPMC13570277

What Socratic 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 Socratic graph.