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- [2] Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region Human Genetics, 2002, 110 : 314 - 321
- [4] Prenatal diagnosis of familial 266-kb 2q13 microquadruplication encompassing MALL and NPHP1 in a pregnancy associated with asymptomatic carrier parent TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2024, 63 (03): : 424 - 425
- [9] Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication Human Genetics, 2002, 111 : 465 - 467