How scientists sorted out confusing gene errors in a rare brain disorder
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Not medical advice. For informational purposes only. Always consult a healthcare professional. Terms
Some kids have brain problems because their bodies can’t use creatine properly, which is important for brain and muscle power. This happens due to broken genes. Scientists made special rules to figure out which gene changes are truly harmful.
No biological mechanisms were identified in this study. This may be an epidemiological, observational, or survey-based study that reports associations rather than proposing causal biological pathways.
Systematic Reviews & Meta-Analyses
Max 100Randomized Controlled Trials
Max 90Cohort Studies
Max 72Case-Control Studies
Max 58Cross-Sectional Studies
Max 44Case Reports & Case Series
Max 30Expert Opinion & Narrative Reviews
Max 5Not medical advice. For informational purposes only. Always consult a healthcare professional. Terms
Some kids have brain problems because their bodies can’t use creatine properly, which is important for brain and muscle power. This happens due to broken genes. Scientists made special rules to figure out which gene changes are truly harmful.
No biological mechanisms were identified in this study. This may be an epidemiological, observational, or survey-based study that reports associations rather than proposing causal biological pathways.
Systematic Reviews & Meta-Analyses
Max 100Randomized Controlled Trials
Max 90Cohort Studies
Max 72Case-Control Studies
Max 58Cross-Sectional Studies
Max 44Case Reports & Case Series
Max 30Expert Opinion & Narrative Reviews
Max 5Publication
Authors
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S
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