Evidence map›Paper›PMID 42793002›Full record

ArticleGenes2026

Identification of

Faisal Almalki, Amal Saleh Alsofyany, Abdulaziz K Almalki, Ashraf Oudah Abu Shuaylan, Haya Alruqi, Jwaher Mesleh Althobiti

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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.

Faisal AlmalkiClinical Laboratory Sciences, Applied Medical Science, Taibah University, Medina 42353, Saudi Arabia.ORCID 0000-0002-8494-6586
Amal Saleh AlsofyanyAlhada Armed Forces Hospital, Ministry of Defence, Taif 26792, Saudi Arabia.
Abdulaziz K AlmalkiAlhada Armed Forces Hospital, Ministry of Defence, Taif 26792, Saudi Arabia.
Ashraf Oudah Abu ShuaylanAlhada Armed Forces Hospital, Ministry of Defence, Taif 26792, Saudi Arabia.
Haya AlruqiCenter for Genetics and Inherited Diseases, Taibah University, Medina 42318, Saudi Arabia.ORCID 0009-0005-3429-6772
Jwaher Mesleh AlthobitiAlhada Armed Forces Hospital, Ministry of Defence, Taif 26792, Saudi Arabia.

Funding

Research, Development and Innovation Authority 12996-iau-2023-TAU-R-3-1-HW-
6 · The paper itself

Abstract

backgroundThe transcobalamin receptor, encoded by the

methodsWhole-exome sequencing (WES) was carried out for a newborn screening positive proband. Further plasma metabolic investigation and blood gas analysis were carried out for the proband. Sanger sequencing was carried out to confirm the candidate variant and identify the familial segregation.

resultsThe proband presented with elevated C3 and MMA levels and exhibited an expanded clinical phenotype that included severe microcephaly, metabolic acidosis, low bicarbonate and pancytopenia. WES identified a homozygous missense candidate variant in the last amino acid of exon 1 in the

conclusionsThis study identified a novel recessive missense candidate variant and an adjacent synonymous candidate variant in

Indexed as

Receptors, Cell SurfaceVitamin B 12 DeficiencyAntigens, CDCarnitineExome SequencingFemaleHomozygoteHumansInfant, NewbornMaleMethylmalonic AcidMutation, MissenseNeonatal ScreeningPedigreeVitamin B 12Antigens, CDCarnitineCD320 protein, humanMethylmalonic AcidpropionylcarnitineReceptors, Cell SurfaceVitamin B 12CD320consanguineousmethylmalonic acid (MMA)missense variantnovelpropionylcarnitine (C3)transcobalamin receptor impairment

Identifiers

PMID42793002
PMCPMC13606811

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.