Evidence map›Paper›PMID 33614378›Full record

ArticleIntractable & rare diseases research2021

A novel homozygous variant in exon 10 of the

Devi Dayal, Shruti Gupta, Rakesh Kumar, Radhika Srinivasan, Bettina Lorenz-Depiereux, Tim M Strom

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Intractable & rare diseases research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 29% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023
    Article
  4. A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023
    Article
  5. PolypeptideMolecules (Basel, Switzerland) · 2021
    Review
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 at 3 institutions in 2 countries.

Devi DayalEndocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Shruti GuptaDepartment of Cytology and Gynaecological Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Rakesh KumarEndocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Radhika SrinivasanDepartment of Cytology and Gynaecological Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Bettina Lorenz-DepiereuxInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Tim M StromInstitute of Human Genetics, Technische Universität München, Munich, Germany.
Post Graduate Institute of Medical Education and Research · INHelmholtz Zentrum München · DETechnical University of Munich · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disorder caused by variants in the

Indexed as

calcinosis cutisGALNT3 genehyperphosphatemic familial tumoral calcinosisIndian familynovel variant

Identifiers

PMID33614378
PMCPMC7882081
OpenAlexW3110366767

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.