P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
| Autor: | Groopman, Emily, Goldstein, Jenny, Thomas-Wilson, Amanda, Reich, Daniel, Kyle, Emily, Aggarwal, Vimla, Preston, Christine, Hart, Kim, Si Yan Liang, Nicole, Young, Sarah, Bianconi, Simona, Longo, Nicola, Wallis, Heidi, Mercimek-Andrews, Saadet |
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| Zdroj: | In Genetics in Medicine Open 2024 2 Supplement 1 |
| Databáze: | ScienceDirect |
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