Publications:

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: GCKR: 1834C>T; Arg612Cys

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

The Journal Of Clinical Investigation

Rees, Matthew G MG; Ng, David D; Ruppert, Sarah S; Turner, Clesson C; Beer, Nicola L NL; Swift, Amy J AJ; Morken, Mario A MA; Below, Jennifer E JE; Blech, Ilana I; , ; Mullikin, James C JC; McCarthy, Mark I MI; Biesecker, Leslie G LG; Gloyn, Anna L AL; Collins, Francis S FS

Publication Date: 2012-01

Variant appearance in text: GCKR: Arg612Cys

PubMed Link: 22182842

Variant Present in the following documents:

• Main text

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