LRRK2 c.1543+104G>A

Variant ID: 12-40653510-G-A

NM_198578.3(LRRK2):c.1543+104G>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22

Variant appearance in text: rs28903073
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
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Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Brain : A Journal Of Neurology
Tan, Manuela M X MMX; Malek, Naveed N; Lawton, Michael A MA; Hubbard, Leon L; Pittman, Alan M AM; Joseph, Theresita T; Hehir, Jason J; Swallow, Diane M A DMA; Grosset, Katherine A KA; Marrinan, Sarah L SL; Bajaj, Nin N; Barker, Roger A RA; Burn, David J DJ; Bresner, Catherine C; Foltynie, Thomas T; Hardy, John J; Wood, Nicholas N; Ben-Shlomo, Yoav Y; Grosset, Donald G DG; Williams, Nigel M NM; Morris, Huw R HR
Publication Date: 2019-09-01

Variant appearance in text: rs28903073
PubMed Link: 31324919
Variant Present in the following documents:
  • awz191_supplementary_data.pdf
View BVdb publication page



Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.

Npj Parkinson'S Disease
Cornejo-Olivas, Mario M; Torres, Luis L; Velit-Salazar, Mario R MR; Inca-Martinez, Miguel M; Mazzetti, Pilar P; Cosentino, Carlos C; Micheli, Federico F; Perandones, Claudia C; Dieguez, Elena E; Raggio, Victor V; Tumas, Vitor V; Borges, Vanderci V; Ferraz, Henrique B HB; Rieder, Carlos R M CRM; Shumacher-Schuh, Artur A; Velez-Pardo, Carlos C; Jimenez-Del-Rio, Marlene M; Lopera, Francisco F; Chang-Castello, Jorge J; Andreé-Munoz, Brennie B; Waldherr, Sarah S; Yearout, Dora D; Zabetian, Cyrus P CP; Mata, Ignacio F IF
Publication Date: 2017

Variant appearance in text: rs28903073
PubMed Link: 28649619
Variant Present in the following documents:
  • Main text
  • 41531_2017_Article_20.pdf
View BVdb publication page



LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population.

Parkinsonism & Related Disorders
Cilia, Roberto R; Siri, Chiara C; Rusconi, Damiana D; Allegra, Roberta R; Ghiglietti, Andrea A; Sacilotto, Giorgio G; Zini, Michela M; Zecchinelli, Anna L AL; Asselta, Rosanna R; Duga, Stefano S; Paganoni, Anna M AM; Pezzoli, Gianni G; Seia, Manuela M; Goldwurm, Stefano S
Publication Date: 2014-08

Variant appearance in text: rs28903073
PubMed Link: 24816003
Variant Present in the following documents:
View BVdb publication page



Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.

Neuroscience Letters
Perez-Pastene, Carolina C; Cobb, Stephanie A SA; Díaz-Grez, Fernando F; Hulihan, Mary M MM; Miranda, Marcelo M; Venegas, Pablo P; Godoy, Osvaldo Trujillo OT; Kachergus, Jennifer M JM; Ross, Owen A OA; Layson, Luis L; Farrer, Matthew J MJ; Segura-Aguilar, Juan J
Publication Date: 2007-07-18

Variant appearance in text: rs28903073
PubMed Link: 17614198
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

American Journal Of Human Genetics
Zabetian, Cyrus P CP; Hutter, Carolyn M CM; Yearout, Dora D; Lopez, Alexis N AN; Factor, Stewart A SA; Griffith, Alida A; Leis, Berta C BC; Bird, Thomas D TD; Nutt, John G JG; Higgins, Donald S DS; Roberts, John W JW; Kay, Denise M DM; Edwards, Karen L KL; Samii, Ali A; Payami, Haydeh H
Publication Date: 2006-10

Variant appearance in text: rs28903073
PubMed Link: 16960813
Variant Present in the following documents:
  • Main text
View BVdb publication page