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Piloting exome resequencing in consanguineous families with homozygosity mapping intervals

ABSTRACT: This pilot study aims to generate pilot data to inform future study designs in consanguineous families or inbred populations by resequencing the exome of six individuals from five families with neurodevelopmental diseases. For all of these families a single mapping interval containing the causal variant has previously been identified.

PROVIDER: EGAS00001000024 | EGA |

REPOSITORIES: EGA

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