Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
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
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"variants and their pathogenicity have been deposited in clinvar under accession numbers scv000891130 to scv000891157.; they are accessible by searching for the accession number (e g scv000891130) or with the keywords "myh9 and nihr and bioresource"( https://www ncbi nlm nih gov/clinvar/?"
"FUNDING INFORMATION WHO is supported by: NIHR RG65966 and RBAG/181, NIHR BioResource ‐ Rare Diseases, British Heart Foundation (RBAG/245, 208, 226), European Commission (RBAG/344), MRC (RBAG/285, 295), NHS Blood and Transplant (RBAG/142), and Wellcome Trust (RBAG/342). P. G. is supported by: MIUR‐FIRB (Protocol #RBFR12W5V5_004), Telethon Foundation Grant (GGP15063), and Fondazione Umberto Veronesi. C. M. M. is supported by the NIHR Imperial College Biomedical Research Centre. N. V. B. is recipient of FIS‐Fondos FEDER CP14/00024."
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Last Updated: Aug 05, 2025