Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Publication Year: 2022

DOI:
10.1186/s41065-022-00224-1

PMCID:
PMC8793247

PMID:
35086560

Journal Information

Full Title: Hereditas

Abbreviation: Hereditas

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
Transparency Indicators
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Evidence found in paper:

"Declarations Ethics approval and consent to participateThe written consents were obtained and documented through the following the entire protocol of the National Institute of Genetic Engineering and Biotechnology (NIGEB) ethics committee (IR. NIGEB.EC.1397.8.23. B). Consent for publicationNot applicable Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

Evidence found in paper:

"Funding No funding was obtained for this study."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025