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We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

WTCCC1 project Autoimmune Thyroid Disease (ATD) samples
WTCCC1 project Breast cancer (BC) samples
WTCCC1 project Multiple Sclerosis (MS) samples
WTCCC1 project Ankylosing Spondylitis (AS) samples
WTCCC1 project samples from 1958 British Birth Cohort
WTCCC genome-wide case-control association study for Autoimmune Thyroid Disease (ATD) using the 1958 British Birth Cohort collection as controls.
WTCCC genome-wide case-control association study for Ankylosing Spondylitis (AS) using the 1958 British Birth Cohort collection as controls.
WTCCC genome-wide case-control association study for Multiple Sclerosis (MS) using the 1958 British Birth Cohort collection as controls.
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