Associated Papers
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Smits DJ et al.
Hgg Advances, 2024
39003500 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M et al.
Nature Communications, 2019
31636353 (PubMed )
Supplement: 41467_2019_12620_MOESM2_ESM.xlsx › Tabelle1
Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas.
Sahm F et al.
Genes, Chromosomes & Cancer, 2016
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