PMC Links for Nucleotide (Select 241666450) - PMC

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Items: 4

Select item 62523661.

Bayesian approach to determining penetrance of pathogenic SDH variants

Diana E Benn, Ying Zhu, Katrina A Andrews, Mathilda Wilding, Emma L Duncan, Trisha Dwight, Richard W Tothill, John Burgess, Ashley Crook, Anthony J Gill, Rodney J Hicks, Edward Kim, Catherine Luxford, Helen Marfan, Anne Louise Richardson, Bruce Robinson, Arran Schlosberg, Rachel Susman, Lyndal Tacon, Alison Trainer, Katherine Tucker, Eamonn R Maher, Michael Field, Roderick J Clifton-Bligh

J Med Genet. 2018 Nov; 55(11): 729–734. Published online 2018 Sep 10. doi: 10.1136/jmedgenet-2018-105427

PMCID:: PMC6252366

Abstract Article PDF–339K

Select item 59249912.

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma

Jin Wook Yi, Hye In Kang, Su-jin Kim, Chan Yong Seong, Young Jun Chai, June Young Choi, Moon-Woo Seong, Kyu Eun Lee, Sung Sup Park

Case Rep Endocrinol. 2018; 2018: 8657914. Published online 2018 Apr 15. doi: 10.1155/2018/8657914

PMCID:: PMC5924991

Abstract Article PDF–1.4M

Select item 54414023.

Ruth T. Casey, David B. Ascher, Eleanor Rattenberry, Louise Izatt, Katrina A. Andrews, Helen L. Simpson, Benjamen Challis, Soo‐Mi Park, Venkata R. Bulusu, Fiona Lalloo, Douglas E. V. Pires, Hannah West, Graeme R. Clark, Philip S. Smith, James Whitworth, Thomas G. Papathomas, Phillipe Taniere, Rosina Savisaar, Laurence D. Hurst, Emma R. Woodward, Eamonn R. Maher

Mol Genet Genomic Med. 2017 May; 5(3): 237–250. Published online 2017 Mar 2. doi: 10.1002/mgg3.279