Statistics for Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in gordon holmes syndrome

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Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in gordon holmes syndrome 1

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Güçlü_vd_2014.pdf 6