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
Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.
Lin PC et al.
Molecular Genetics & Genomic Medicine, 2020
32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1
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