Associated Papers
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
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Leukemia, 2025
40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM5_ESM.xls › CHEK2_Supplemental_Table_4_v25
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.
Shen Y et al.
Frontiers in Genetics, 2022
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 2020
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
Deschauer M et al.
Journal of Neurology, 2007
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