Associated Papers
Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.
Yu F et al.
Briefings in Bioinformatics, 2025
40982469 (PubMed )
Supplement: supplemental_materials_1_bbaf483.xlsx › Table_S5_
Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.
Awad F et al.
Frontiers in Reproductive Health, 2025
41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.
Yang L et al.
Frontiers in Genetics, 2018
29456554 (PubMed )
Supplement: Data_Sheet_2.XLSX › Variants_detected
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Schwabe GC et al.
Human Mutation, 2008
Select a paper to view details