Associated Papers
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
35835773 (PubMed )
Supplement: 41525_2022_311_MOESM2_ESM.xlsx › Table_S4
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Phelps IG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28771248 (PubMed )
Supplement: NIHMS885103-supplement-Supplementary___Appendix__online_only_material__etc___3.pdf
Germline mutations in MAP3K6 are associated with familial gastric cancer.
Gaston D et al.
Plos Genetics, 2014
25340522 (PubMed )
Supplement: pgen.1004669.s004.xlsx › Sheet1
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