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UnknownLimb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.
Not available
S-EPMC447621 | biostudies-literature
UnknownA gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
Not available
S-EPMC1377246 | biostudies-literature
UnknownST3GAL3 mutations impair the development of higher cognitive functions.
Not available
S-EPMC3169827 | biostudies-literature
UnknownMutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
Not available
S-EPMC2882650 | biostudies-literature
UnknownMutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
Not available
S-EPMC2694972 | biostudies-literature
UnknownX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Not available
S-EPMC5414091 | biostudies-literature
UnknownRARE TUMOURS
Not available
S-EPMC4046297 | biostudies-literature
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