Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia (Q33395814)
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| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia |
scientific article |
Statements
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Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia (English)
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NISC Comparative Sequencing Program
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Andrew R Cullinane
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Thierry Vilboux
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Kevin O'Brien
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James A Curry
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Dawn M Maynard
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Hannah Carlson-Donohoe
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Carla Ciccone
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Thomas C Markello
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Meral Gunay-Aygun
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Marjan Huizing
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William A Gahl
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Identifiers
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