Publications:

GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics

Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J

Publication Date: 2023-06-13

Variant appearance in text: CP: G195E

PubMed Link: 37312046

Variant Present in the following documents:

• 12864_2023_9417_MOESM1_ESM.pdf

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Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Nakano, Eriko E; Geisz, Andrea A; Masamune, Atsushi A; Niihori, Tetsuya T; Hamada, Shin S; Kume, Kiyoshi K; Kakuta, Yoichi Y; Aoki, Yoko Y; Matsubara, Yoichi Y; Ebert, Karolin K; Ludwig, Maren M; Braun, Markus M; Groneberg, David A DA; Shimosegawa, Tooru T; Sahin-Tóth, Miklós M; Witt, Heiko H

Publication Date: 2015-10-15

Variant appearance in text: CP: 584G>A

PubMed Link: 26316592

Variant Present in the following documents:

• Main text

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