Associated Papers
Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c.
Pang L et al.
Frontiers in Medicine, 2023
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
Ling C et al.
Bmc Medical Genetics, 2019
30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1
Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS.
Wang X et al.
Oncotarget, 2017
29228571 (PubMed )
Supplement: oncotarget-08-96791-s002.xlsx › Sheet1
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