Publications:

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Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Frontiers In Genetics

Oommen, Deepu D; Kizhakkedath, Praseetha P; Jawabri, Aseel A AA; Varghese, Divya Saro DS; Ali, Bassam R BR

Publication Date: 2020

Variant appearance in text: LDLR: 2053C>T; P685S; rs2569548

PubMed Link: 33173538

Variant Present in the following documents:

• Main text
• fgene-11-570355.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: LDLR: P685S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences

Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C

Publication Date: 2018-06-05

Variant appearance in text: LDLR: 2053C>T; Pro685Ser

PubMed Link: 29874871

Variant Present in the following documents:

• Main text
• ijms-19-01676.pdf

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Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.

Plos One

Etxebarria, Aitor A; Benito-Vicente, Asier A; Alves, Ana C AC; Ostolaza, Helena H; Bourbon, Mafalda M; Martin, Cesar C

Publication Date: 2014

Variant appearance in text: LDLR: 2053C>T; Pro685Ser

PubMed Link: 25386756

Variant Present in the following documents:

• Main text
• pone.0112677.pdf

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: LDLR: P685S

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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Distribution and effects of nonsense polymorphisms in human genes.

Plos One

Yamaguchi-Kabata, Yumi Y; Shimada, Makoto K MK; Hayakawa, Yosuke Y; Minoshima, Shinsei S; Chakraborty, Ranajit R; Gojobori, Takashi T; Imanishi, Tadashi T

Publication Date: 2008

Variant appearance in text: rs2569548

PubMed Link: 18852891

Variant Present in the following documents:

View BVdb publication page

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