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Genomicsena-DATASET-CHUV-26-07-2017-14:49:34:899-912 - samples
These are the vcf files of exome sequencing of the two probands who were found to harbor mutations in KLB. Sample: EGAN00001564799 is the proband 1; Sample: EGAN00001564800 is the proband 11 in the KLB paper. Exome capture was performed using the SureSelect All Exon capture (Agilent Technologies, S...
EGAD00001003463 | EGA
GenomicsKLB mutations in congenital hypogonadotropic hypogonadism
To test if patients with congenital hypogonadotropic hypogonadism harbor mutations in FGF21 and KLB (encoding the co-receptor of FGF21)
EGAS00001002568 | EGA
GenomicsDAC for Pitteloud group
Data Access Committee EGAC00001000690
EGAC00001000690 | EGA
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