Associated Papers
Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.
Khan TN et al.
Human Mutation, 2025
40860288 (PubMed )
Supplement: 5530710.f1.zip › Khan_et_al__Supplementary_Table_3_R3_ES.pdf
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
Plasma transfusion combined with chelating therapy alleviates fulminant Wilson's disease with a single Arg778Leu heterozygote mutation.
Liu L et al.
Annals of Hepatology, 0
Select a paper to view details