Publications:

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine

Sakaguchi, Narumi N; Suyama, Mikita M

Publication Date: 2022-03-18

Variant appearance in text: ACHE: 1527A>G; Arg509Arg; rs1217560470

PubMed Link: 35304488

Variant Present in the following documents:

• 41525_2022_294_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Exome scale map of genetic alterations promoting metastasis in colorectal cancer.

Bmc Genetics

Goryca, Krzysztof K; Kulecka, Maria M; Paziewska, Agnieszka A; Dabrowska, Michalina M; Grzelak, Marta M; Skrzypczak, Magdalena M; Ginalski, Krzysztof K; Mroz, Andrzej A; Rutkowski, Andrzej A; Paczkowska, Katarzyna K; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2018-09-19

Variant appearance in text: ACHE: R509R

PubMed Link: 30231850

Variant Present in the following documents:

• 12863_2018_673_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page