Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Authors:
Wang C; Lin Z; Yuan Z; Tang T; Fan L and 2 more

Journal:
Hereditas

Publication Year: 2023

DOI:
10.1186/s41065-023-00282-z

PMCID:
PMC10176718

PMID:
37173762

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
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Evidence found in paper:

"Declarations Ethics approval and consent to participateThe patient give written informed consent before participation. Consent for publicationThe patient give written informed consent before participation. 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 This study was supported by the National Natural Science Foundation of China (82000427, 82201394)."

Protocol Registration
Open Access
Paper is freely available to read
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025