Evidence map›Paper›PMID 41694855›Full record

ArticleCureus2026

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution.

Naveen Kumar, Prasad Dange, Amrapali Samadder, Shabnam Kalita, Jaya Shankar Kaushik

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cureus, 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

5 authors.

Naveen KumarPathology and Laboratory Medicine, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.
Prasad DangePathology, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.
Amrapali SamadderPathology and Laboratory Medicine, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.
Shabnam KalitaPediatrics, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.
Jaya Shankar KaushikPediatrics, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder resulting from pathogenic variants in the

Indexed as

bone marrow aspiration and biopsygaucher disease type 3gba gene mutationlysosomal storage diseasessplenomegaly

Identifiers

PMID41694855
PMCPMC12896666

What OpenQuestion holds

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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.