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UnknownTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Not available
S-EPMC4468853 | biostudies-literature
UnknownA rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Not available
S-EPMC4167609 | biostudies-literature
UnknownWhole-genome sequence-based analysis of thyroid function.
Not available
S-EPMC4366514 | biostudies-literature
UnknownBi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Not available
S-EPMC6507039 | biostudies-literature
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