Genomics

Dataset Information

0

Fbbc6fed-2dc7-403a-b226-f3efe6e46ef2 - samples


ABSTRACT: The study includes WGS data for DNA extracted from blood, fibroblasts or buccal swabs from sixteen family members, who represent four sub-families, each including two parents and one to three children, comprising a total of eight offspring. In two sub-families POLD1 L474P was carried by the father; in one sub-family, by the mother; and in the other sub-family, both parents had wild-type POLD1.

PROVIDER: EGAD00001009282 | EGA |

REPOSITORIES: EGA

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