Associated Papers
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y et al.
Nature Communications, 2019
30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PA
A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations.
Liu HZ et al.
Oncotarget, 2017
27835862 (PubMed )
Supplement: oncotarget-08-2708-s002.xls › candidate
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
Pippucci T et al.
Plos One, 2013
24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1
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