Novel ACTN1 variants in cases of thrombocytopenia.

Authors:
Vincenot A; Saultier P; Kunishima S; Poggi M; Hurtaud-Roux MF and 4 more

Journal:
Hum Mutat

Publication Year: 2019

DOI:
10.1002/humu.23840

PMCID:
PMC6900141

PMID:
31237726

View on PubMed View on PMC View Publisher
Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Related Papers from Same Journal
Advances in the development of PubCaseFinder, including the new application programming interface a…
Fujiwara T; Shin JM; Yamaguchi A. (2022) - Transparency Score: 3/6
Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomic…
Rambla J; Baudis M; Ariosa R and 12 more (2022) - Transparency Score: 3/6
Bioinformatics detection of modulators controlling splicing factor-dependent intron retention in th…
Chen SX; Simpson E; Reiter JL and 1 more (2022) - Transparency Score: 3/6
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes …
Goudal A; Karakachoff M; Lindenbaum P and 19 more (2022) - Transparency Score: 4/6
Clinical exome sequencing-Mistakes and caveats.
Corominas J; Smeekens SP; Nelen MR and 4 more (2022) - Transparency Score: 3/6
View All Papers from This Journal
Transparency Score
2/6
0.0% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Data Sharing
Code Sharing
Evidence found in paper:

"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."

Evidence found in paper:

"The authors thank Noémie Saut for performing genetic analyses, Sonia Poirault Chassac for performing immunofluorescence image analyses, Odile Fenneteau for helpful discussions, and Olivier René and Sylvie Binard for technical assistance. The authors also thank the patients and their families for their participation in the study. The study was funded in part by the “Département de la Recherche Clinique et du Développement (DRCD), Assistance Publique‐Hôpitaux de Paris” (ID No.: P070110), the “Fondation pour la Recherche Médicale” (Grant to P. S.: FDM20150633607) and the French Foundation for Rare Diseases (Grant WES 2012‐2001)."

Protocol Registration
Open Access
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025