ArticleFrontiers in endocrinology2018
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in
Article in Frontiers in endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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.
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.
Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.JCEM case reports · 2026Article
- Genetic Variants Influencing Individual Vitamin D Status.Nutrients · 2025Review
- Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview.Children (Basel, Switzerland) · 2024Article
- AHeliyon · 2024Article
- Adrenal Dysfunction in Mitochondrial Diseases.International journal of molecular sciences · 2023Review
- Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.Frontiers in endocrinology · 2023Review
- Can Digenic, Tri-Allelic Inheritance of Variants inFrontiers in endocrinology · 2022Article
- Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing.Orphanet journal of rare diseases · 2021Article
- Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.Journal of the Endocrine Society · 2021Article
- The significance of CYP11A1 expression in skin physiology and pathology.Molecular and cellular endocrinology · 2021Article
- Editorial: Steroids and Secosteroids in the Modulation of Inflammation and Immunity.Frontiers in immunology · 2021Article
- Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency withCase reports in endocrinology · 2021Article
- Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.European journal of endocrinology · 2020Article
- Primary adrenal insufficiency: New genetic causes and their long-term consequences.Clinical endocrinology · 2020Review
- Normal male external genitalia do not rule out CYP11A1 deficiency.BMJ case reports · 2019Article
- Response to Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency".The Journal of clinical endocrinology and metabolism · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
What OpenQuestion holds
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.