Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

Authors:
Lou Y; Shi X; Su G; Guo Y; Gao L and 3 more

Journal:
Mol Genet Genomic Med

Publication Year: 2024

DOI:
10.1002/mgg3.2389

PMCID:
PMC10858311

PMID:
38337158

View on PubMed View on PMC View Publisher
Journal Information

Full Title: Mol Genet Genomic Med

Abbreviation: Mol Genet Genomic Med

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
A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoi…
Zhou Q; Chen D; Yu J and 5 more (2024) - Transparency Score: 1/6
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated …
Sun J; Yang N; Xu Z and 2 more (2024) - Transparency Score: 3/6
A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enl…
Wang S; Zhu YM; Xu C and 6 more (2024) - Transparency Score: 3/6
Antenatal description of large 4q13.2q21.23 deletion and outcomes.
Giguet-Valard AG; Thevenin C; Dreux S and 7 more (2024) - Transparency Score: 4/6
Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples…
Pazoki N; Salehi M; Angaji SA and 1 more (2024) - Transparency Score: 3/6
View All Papers from This Journal
Transparency Score
3/6
50.0% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Evidence found in paper:

"the variant in our patient was uploaded to the clinvar database (accession number: scv004176289)."

Code Sharing
Evidence found in paper:

"CONFLICT OF INTEREST STATEMENT The authors declare that there are no conflicts of interest."

Funding Disclosure
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