Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: CP: L66P

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.

Molecular Genetics & Genomic Medicine

Leija-Salazar, Melissa M; Sedlazeck, Fritz J FJ; Toffoli, Marco M; Mullin, Stephen S; Mokretar, Katya K; Athanasopoulou, Maria M; Donald, Aimee A; Sharma, Reena R; Hughes, Derralynn D; Schapira, Anthony H V AHV; Proukakis, Christos C

Publication Date: 2019-03

Variant appearance in text: CP: L66P

PubMed Link: 30637984

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

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Biophysical characterization of naturally occurring titin M10 mutations.

Protein Science : A Publication Of The Protein Society

Rudloff, Michael W MW; Woosley, Alec N AN; Wright, Nathan T NT

Publication Date: 2015-06

Variant appearance in text: CP: L66P

PubMed Link: 25739468

Variant Present in the following documents:

• Main text

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Mutations in pre-core and basal-core promoter regions of hepatitis B virus in chronic HBV patients from Golestan, Iran.

Iranian Journal Of Basic Medical Sciences

Moradi, Abdolvahab A; Zhand, Sareh S; Ghaemi, Amir A; Javid, Naeme N; Bazouri, Masoud M; Tabarraei, Alijan A

Publication Date: 2014-05

Variant appearance in text: CP: L66P

PubMed Link: 24967066

Variant Present in the following documents:

• IJBMS-17-370.pdf

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