Exome sequencing-aided precise diagnosis of four families with type I Stickler syndrome.

Authors:
Tian R; Tong P; He Y; Zang L; Zhou S and 1 more

Journal:
Mol Genet Genomic Med

Publication Year: 2023

DOI:
10.1002/mgg3.2331

PMCID:
PMC10767595

PMID:
38073514

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

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66.7% Transparent
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Evidence found in paper:

"sequence variants have been submitted to the clinvar database with accession number scv002576562-scv002576568 ( https://www ncbi nlm nih gov/clinvar/? the correlation study included a total of 172 col2a1 gene mutations in 830 patients including four reported in this study (dataset s1 ).; dataset s1."

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Evidence found in paper:

"CONFLICT OF INTEREST STATEMENT The authors declare no competing interests."

Evidence found in paper:

"FUNDING INFORMATION This study was supported by the Natural Science Foundation of Hunan Province (2021JJ40811) to Qi Tian, (2019JJ40408) to Shimin Zhou."

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Paper is freely available to read
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Last Updated: Aug 05, 2025