Publications:

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Pharmacological Chaperones and Protein Conformational Diseases: Approaches of Computational Structural Biology.

International Journal Of Molecular Sciences

Grasso, Daniela D; Galderisi, Silvia S; Santucci, Annalisa A; Bernini, Andrea A

Publication Date: 2023-03-18

Variant appearance in text: PAH: L444P

PubMed Link: 36982893

Variant Present in the following documents:

• Main text
• ijms-24-05819.pdf

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Effect Modification between Genes and Environment and Parkinson's Disease Risk.

Annals Of Neurology

Periñán, Maria Teresa MT; Brolin, Kajsa K; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; Klein, Christine C; Gan-Or, Ziv Z; Singleton, Andrew A; Gomez-Garre, Pilar P; Swanberg, Maria M; Mir, Pablo P; Noyce, Alastair A

Publication Date: 2022-11

Variant appearance in text: PAH: Leu444Pro

PubMed Link: 35913124

Variant Present in the following documents:

• Main text
• ANA-92-715.pdf

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Second-Generation Pharmacological Chaperones: Beyond Inhibitors.

Molecules (Basel, Switzerland)

Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C

Publication Date: 2020-07-09

Variant appearance in text: PAH: L444P

PubMed Link: 32660097

Variant Present in the following documents:

• Main text
• molecules-25-03145.pdf

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Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Beshlawy, Amal El AE; Murugesan, Vagishwari V; Mistry, Pramod Kumar PK; Eid, Khaled K

Publication Date: 2019-09

Variant appearance in text: PAH: L444P

PubMed Link: 31309038

Variant Present in the following documents:

• main.pdf

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Genetics and genomic medicine in the Philippines.

Molecular Genetics & Genomic Medicine

Padilla, Carmencita D CD; Cutiongco-de la Paz, Eva Maria EM

Publication Date: 2016-09

Variant appearance in text: PAH: L444P

PubMed Link: 27652277

Variant Present in the following documents:

• Main text
• MGG3-4-494.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PAH: L444P

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: PAH: L444P

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_Article_184.pdf

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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS

Publication Date: 2013-03

Variant appearance in text: PAH: L444P

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

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Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.

Embo Molecular Medicine

Parenti, Giancarlo G

Publication Date: 2009-08

Variant appearance in text: PAH: L444P

PubMed Link: 20049730

Variant Present in the following documents:

• Main text
• emmm0001-0268.pdf

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