Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Data and Resources
Additional Info
| Field | Value |
|---|---|
| Source | ISSN: 1090-0535 |
| Author | Ben Rebeh, Imen, Morinière, Madeleine, Ayadi, Leila, Benzina, Zeineb, Charfedine, Ilhem, Feki, Jamel, Ayadi, Hammadi, Ghorbel, Abdelmonem, Baklouti, Faouzi, Masmoudi, Saber |
| Maintainer | CCSD |
| Last Updated | May 15, 2026, 16:23 (UTC) |
| Created | May 15, 2026, 16:23 (UTC) |
| Identifier | hal-00709419 |
| Language | en |
| contributor | Centre de génétique et de physiologie moléculaire et cellulaire (CGPhiMC) ; Université Claude Bernard Lyon 1 (UCBL) ; Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS) |
| creator | Ben Rebeh, Imen |
| date | 2010-05-15T00:00:00 |
| harvest_object_id | 14f1bb84-e48a-4e58-9a30-26841cfe124d |
| harvest_source_id | 3374d638-d20b-4672-ba96-a23232d55657 |
| harvest_source_title | test moissonnage SELUNE |
| metadata_modified | 2025-05-28T00:00:00 |
| relation | info:eu-repo/semantics/altIdentifier/pmid/21031134 |
| set_spec | type:ART |