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
Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.
Matsuda Y et al.
Neurology. Genetics, 2020
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.
Matsukawa T et al.
Journal of the Neurological Sciences, 2017
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