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Genotype–phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.

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Title: Genotype–phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.
Authors: Liu, Shu-Ning1 (AUTHOR) carpediem270394@gmail.com, Chi, Ching-Shiang1 (AUTHOR) chi-cs@hotmail.com, Lee, Hsiu-Fen1,2 (AUTHOR) leehf@hotmail.com.tw, Tsai, Chi-Ren1 (AUTHOR) n20248@vghtc.gov.tw, Yang, Yao-Lun1 (AUTHOR) joey080369@yahoo.com.tw, Wu, Pei-Yu1 (AUTHOR) wurpy2002@gmail.com
Source: Orphanet Journal of Rare Diseases. 7/25/2025, Vol. 20 Issue 1, p1-11. 11p.
Database: Academic Search Ultimate
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ISSN:17501172
DOI:10.1186/s13023-025-03908-9