Associated Papers
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C et al.
American Journal of Human Genetics, 2022
35460607 (PubMed )
Supplement: mmc2.xlsx › Table_S4
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
Exome sequencing in a family with restless legs syndrome.
Weissbach A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
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