Associated Papers
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
Fan S et al.
American Journal of Human Genetics, 2021
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
Tamiya G et al.
American Journal of Human Genetics, 2014
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