Publications:

Left main revascularization with optical coherence tomography in a young male with newly diagnosed homozygous familial hypercholesterolemia.

Journal Of Cardiology Cases

Revaiah, Pruthvi C PC; Bootla, Dinakar D; Vemuri, Krishna Santosh KS; Nevali, Krishna Prasad KP; Ghosh, Soumitra S; Sharma, Yash Paul YP; Panda, Prashant P

Publication Date: 2022-01

Variant appearance in text: LDLR: Trp6Ter

PubMed Link: 35024061

Variant Present in the following documents:

• Main text

View BVdb publication page

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: LDLR: 18G>A; Trp6Ter

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page