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Article 2 Female 2 Humans 2 Male 2 Middle Aged 2 Pedigree 2 adult 2 autosomal dominant disorder case report 2 clinical article 2 exon 2 female 2 genetics 2 human 2 male 2 middle aged 2 pedigree 2 whole exome sequencing 2 Adult 1 DNA extraction 1 Heterozygote 1 High-Throughput Nucleotide Sequencing 1 INDEL Mutation 1 Iran 1 Iranian people 1 MITF gene 1 MITF protein, human 1 Membrane Proteins 1 Microphthalmia-Associated Transcription Factor 1 Mutation 1
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    Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing
    Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing
    by Javanshir, N., Nasirshalal, M., Panahi, M., Salmani, H.
    Published 2021
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  2. 2
    Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy
    Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy
    by Cao, H., Dong, H., Ji, X., Luan, S., Wang, Z.
    Published 2021
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Cao, H. 1 Dong, H. 1 Javanshir, N. 1 Ji, X. 1 Luan, S. 1 Nasirshalal, M. 1 Panahi, M. 1 Salmani, H. 1 Wang, Z. 1 see all ...
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