A group of experts was one of the first to make special rules for classifying gene changes in a rare brain disorder caused by a faulty gene on the X chromosome, helping doctors better understand how...

Evidence from Studies

Supporting (1)

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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.

Computational/Algorithm Study

2024 May

Contradicting (0)

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No contradicting evidence found

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Source Study

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.

DOI: 10.1016/j.ymgme.2024.108362

Similar Assertions

A group of experts made special rules to better understand genetic changes linked to rare brain-related creatine disorders, using extra medical and lab clues to make more accurate diagnoses.

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A team of experts reviewed 34 confusing genetic test results for a rare brain disorder and were able to clear up nearly two-thirds of the uncertainties, making it easier for doctors to give accurate diagnoses.

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