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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye and 32 more (opens in a new tab)
Nature Communications · 2017
doi:10.1038/s41467-017-01429-z (opens in a new tab)
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