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Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

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Bibliographic Details
Title: Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
Authors: Fei, Hongjun1,2 (AUTHOR), Han, Xu1,2 (AUTHOR), Chen, Yiyao1,2 (AUTHOR), Xu, Yan1,2 (AUTHOR), Chang, Chunxin1,2 (AUTHOR), Li, Ming1,2 (AUTHOR), Wang, Yanlin1,2 (AUTHOR), Wang, Jian1,2,3 (AUTHOR), Li, Niu1,2,3 (AUTHOR) Liniu0509@163.com, Li, Shuyuan1,2,3 (AUTHOR) shuyuanli816@163.com
Source: Orphanet Journal of Rare Diseases. 5/23/2025, Vol. 20 Issue 1, p1-11. 11p.
Database: Academic Search Ultimate
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Description
ISSN:17501172
DOI:10.1186/s13023-025-03807-z