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To date, more than 120 different pathogenic variants of citrin have been reported in the literature worldwide (reviewed in [8], with additional ones in Table 1) and 168 in the Human Gene Mutation Database (HGMD), but the number of identified variants continues to grow with an increasing number of diagnoses each year

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It helps to produce myelin, a fatty substance that covers and protects nerve fibres and is involved in the synthesis of DNA

(December 1980)

In MASLD, fat accumulates inside liver cells, and changes in cell membrane composition may impair how those cells function and handle fats