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UnknownTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Not available
S-EPMC4468853 | biostudies-literature
0
UnknownA rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Not available
S-EPMC4167609 | biostudies-literature
0
UnknownWhole-genome sequence-based analysis of thyroid function.
Not available
S-EPMC4366514 | biostudies-literature
1K
Other,MultiomicsWellcome Trust Sanger Institute
The Wellcome Trust Sanger Institute (WTSI), Hinxton, Cambridge, UK is a not-for-profit research organisation and a world famous Genome Centre dedicated to the sequencing and functional analysis of genomes. The Sanger Institute underpins biological and medical research worldwide through large-scale an...
EGAO00000000020 | EGA
0
UnknownBi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Not available
S-EPMC6507039 | biostudies-literature
0
Genomics,MultiomicsICGC Data Access Compliance Office
To access Controlled Access ICGC data at the EGA you must first apply for access on the DACO form. Instructions on this process is available from this web site: http://docs.icgc.org/portal/access/
EGAC00001000010 | EGA
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