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cDNA Name
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c.3148C>G
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Protein Name
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p.Pro1050Ala
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Exon or Intron
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exon 20
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Other Details
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This mutation was identified by DGGE analysis and confirmed by DNA Sequencing
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Contributors and Institutes
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| Angius A. | - | Pediatria – Laboratorio di Genetica Molecolare – Università degli Studi di Perugia - Italy | | Stasi M. | - | Pediatria – Laboratorio di Genetica Molecolare – Università degli Studi di Perugia - Italy | | Bitetti M. | - | Pediatria – Laboratorio di Genetica Molecolare – Università degli Studi di Perugia - Italy | | Furbetta M. | - | Pediatria – Laboratorio di Genetica Molecolare – Università degli Studi di Perugia - Italy |
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Submitted Phenotype Details
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The above mutation was detected in an Italian man studied for couple’s infertility. He had normal semen analysis.
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Reference
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