Associated Papers
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5
An analysis of mutational signatures of synonymous mutations across 15 cancer types.
Bin Y et al.
Bmc Medical Genetics, 2019
31815613 (PubMed )
Supplement: 12881_2019_926_MOESM2_ESM.xlsx › Neutral_synonymous_mutations
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ et al.
Orphanet Journal of Rare Diseases, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
Rong W et al.
Plos One, 2014
24831256 (PubMed )
Supplement: pone.0097808.s003.xlsx › HD69_HD70
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Aller E et al.
Molecular Vision, 2010
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