Evidence map›Paper›PMID 27271431›Full record

ArticleAmerican journal of medical genetics. Part A2016

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.

Malavika Hebbar, Harsha Prasada L, Aneek Das Bhowmik, Daniel Trujillano, Anju Shukla, Shrijeet Chakraborti, Krishna Kumar Kandaswamy, Arndt Rolfs, Nutan Kamath, Ashwin Dalal and 2 more

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

Article in American journal of medical genetics. Part A, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 26% of its field
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

4 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. 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

12 authors at 6 institutions in 3 countries.

Malavika HebbarDepartment of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
Harsha Prasada LDepartment of Pediatrics, Kasturba Medical College, Manipal University, Mangalore​, Karnataka, India.
Aneek Das BhowmikDiagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.
Daniel TrujillanoCentogene AG, Rostock, Mecklenburg-Vorpommern, Germany.
Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
Shrijeet ChakrabortiDepartment of Pathology, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India.
Krishna Kumar KandaswamyCentogene AG, Rostock, Mecklenburg-Vorpommern, Germany.
Arndt RolfsCentogene AG, Rostock, Mecklenburg-Vorpommern, Germany.
Nutan KamathDepartment of Pediatrics, Kasturba Medical College, Manipal University, Mangalore​, Karnataka, India.
Ashwin DalalDiagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.
Stephanie BielasDepartment of Human Genetics, University of Michigan, Ann Arbor, Michigan.
Katta Mohan GirishaDepartment of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
Manipal Academy of Higher Education · INCentogene (Germany) · DECentre for DNA Fingerprinting and Diagnostics · INKasturba Medical College, Manipal · INUniversity of Michigan–Ann Arbor · USUniversity of Rostock · DE

Funding

Genetic Diagnosis of Heritable Neurodevelopmental Disorders with Exome SequencingR21NS094047 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BIELAS, STEPHANIE LEE · 2015 to 2016
$341k
NINDS NIH HHS R21 NS094047
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ExonsSequence DeletionCarrier ProteinsExome SequencingFemaleGlycoproteinsHumansInfantNiemann-Pick Disease, Type CVesicular Transport ProteinsCarrier ProteinsGlycoproteinsNPC2 protein, humanVesicular Transport Proteins

Identifiers

PMID27271431
PMCPMC6422680
OpenAlexW2409289109

What OpenQuestion holds

Textmetadata
LicenceTDM
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.