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- [4] Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family JOURNAL OF DERMATOLOGY, 2017, 44 (08): : E184 - E185
- [10] Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1 Molecular Biology Reports, 2023, 50 : 1117 - 1123