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UnknownHyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
Not available
S-EPMC6877321 | biostudies-literature
UnknownIHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
Not available
S-EPMC10425348 | biostudies-literature
TranscriptomicsTranscription profiling of blackcurrant (Ribes nigrum cv Ben Hope) bud tissue during dormancy and bud-break.
Transcriptional analysis of staged leaf bud tissue during dormancy and bud-break in blackcurrant using SCRI custom Ribes 4k arrays
ORGANISM(S): Ribes nigrum 
2010-05-01 | E-TABM-807 | biostudies-arrayexpress
UnknownUtility of a molecular prescreening program in advanced colorectal cancer for enrollment on biomarker-selected clinical trials.
Not available
S-EPMC6276928 | biostudies-literature
UnknownA novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.
Not available
S-EPMC4256830 | biostudies-literature
UnknownIntegration of SNP genotyping confidence scores in IBD inference.
Not available
S-EPMC3187655 | biostudies-literature
UnknownIsolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
Not available
S-EPMC3992574 | biostudies-literature
UnknownDeciphering the fine-structure of tribal admixture in the Bedouin population using genomic data.
Not available
S-EPMC3907104 | biostudies-literature
UnknownMutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
Not available
S-EPMC2948803 | biostudies-literature
UnknownBNT162b2 mRNA Covid-19 Vaccine in a Nationwide Mass Vaccination Setting.
Not available
S-EPMC7944975 | biostudies-literature
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