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P.G403D mutation activates CACNA1D. 1 / 1

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"The identification of an activating p.G403D mutation in 2 unrelated patients with congenital HH supports the role of CACNA1D as an aetiological gene for HH, and screening for mutations in this gene should be considered in an individual with HH in addition to heart defects."

28318089

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IndraLab

Statements

P.G403D mutation activates CACNA1D. 1 / 1

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