Associated Papers
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.
Savatt JM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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