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Author/Creator Mar Fan, Helen

1. Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility. Issue 12 (9th November 2020)

Authors:
Tudini, Emma; Davidson, Aimee L; Dressel, Uwe; Andrews, Lesley; Antill, Yoland; Crook, Ashley; Field, Michael; Gattas, Michael; Harris, Rebecca; Kirk, Judy; Pachter, Nicholas; Salmon, Lucinda; Susman, Rachel; Townshend, Sharron; Trainer, Alison H; Tucker, Katherine M; Mitchell, Gillian; James, Pa...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 12(2021)
Page Start:
853
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Issue 3 (19th December 2019)

Authors:
Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; J...
Journal:
Human mutation
Issue:
Volume 41:Issue 3(2020)
Page Start:
641
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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