Associated Papers
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_2.xlsx › genaration_II_somatic
Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin's family by multi-omics analysis.
Hao XD et al.
Orphanet Journal of Rare Diseases, 2020
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