Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects.
Lin F et al.
Bmc Medical Genomics, 2021
34511133 (PubMed )
Supplement: 12920_2021_1073_MOESM5_ESM.xlsx › Low_frequency
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
Yum SW et al.
Annals of Neurology, 2009
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
Abe A et al.
Journal of Human Genetics, 2009
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