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Dataset

Exome sequencing in a consanguineous family with hypoaldosteronism identtifying LGR4 mutations

Dataset ID Technology Samples
EGAD00001009761 NextSeq 500 5

Dataset Description

The dataset contains whole exome sequencing of a family revealing a homozygous splice variant LGR4 gene rresponsible of salt wasting and adrenal zonation alteration. The members sequences were the proband with hypoaldosteronism , her parents and her two healthy brother in a consanguineous family.

Data Use Conditions

HMB RS PUB COL IRB US IS

See further information on Data Use Conditions

Label Code Version Modifier
health or medical or biomedical research DUO:0000006 2021-02-23
research specific restrictions DUO:0000012 2021-02-23
publication required DUO:0000019 2021-02-23
collaboration required DUO:0000020 2021-02-23
ethics approval required DUO:0000021 2021-02-23
user specific restriction DUO:0000026 2021-02-23
project specific restriction DUO:0000027 2021-02-23
institution specific restriction DUO:0000028 2021-02-23
general research use DUO:0000042 2021-02-23
not for profit organisation use only DUO:0000045 2021-02-23
non-commercial use only DUO:0000046 2021-02-23