ArticlePakistan journal of medical sciences
Mutational spectrum of
Article in Pakistan journal of medical sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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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.
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.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.JIMD reports · 2026Article
- SMPD1 gene variants in patients with β-Thalassemia major.Molecular biology reports · 2023Article
- Description of novel variants in consanguineous Pakistani families affected with intellectual disability.Genes & genomics · 2023Article
- Article
- Article
- Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan.Orphanet journal of rare diseases · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveGenetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients.
methodsWe sequenced the
resultsWe have mapped five different mutations in
conclusionThis is the first report of genetic demographic assessment of Niemann-Pick disease in Pakistan. The mapped mutations would be helpful to build a disease variants algorithm of Pakistani population. This will be used for determining disease clinical magnitude along with provision of genetic screening services in affected families.
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Registered trials
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.