Evidence map›Paper›PMID 39456695›Full record

ReviewInternational journal of molecular sciences2024

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.

Lorenzo Cipriano, Rosario Ferrigno, Immacolata Andolfo, Roberta Russo, Daniela Cioffi, Maria Cristina Savanelli, Valeria Pellino, Antonella Klain, Achille Iolascon, Carmelo Piscopo

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

Review in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Hypocalcemic Tetany Transiently "Cured" by Pregnancy: A Case Report.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2025
    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

10 authors.

Lorenzo CiprianoDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
Rosario FerrignoEndocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.
Immacolata AndolfoDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
Roberta RussoDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.ORCID 0000-0002-3624-7721
Daniela CioffiEndocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.
Maria Cristina SavanelliEndocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.
Valeria PellinoEndocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.
Antonella KlainEndocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.
Achille IolasconDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.ORCID 0000-0002-9558-0356
Carmelo PiscopoMedical and Laboratory Genetics Unit, A.O.R.N. "Antonio Cardarelli", 80131 Naples, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Defects of the

Indexed as

ChromograninsGenetic Association StudiesGTP-Binding Protein alpha Subunits, GsBrachydactylyChildFemaleHumansIntellectual DisabilityMaleMutationOssification, HeterotopicPhenotypePseudohypoparathyroidismSequence DeletionChromograninsGNAS protein, humanGTP-Binding Protein alpha Subunits, Gsc.565_568delGACTGNASheterotopic ossificationsintellectual disabilityPHP1a

Identifiers

PMID39456695
PMCPMC11507458

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.