Publications:

Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

Scientific Reports

Hughes, Bryan G BG; Harrison, Paul M PM; Hekimi, Siegfried S

Publication Date: 2017-12-18

Variant appearance in text: COQ8A: 1824C>T; Ser608=

PubMed Link: 29255295

Variant Present in the following documents:

• 41598_2017_17564_MOESM3_ESM.xlsx, sheet 10

View BVdb publication page

Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: ADCK3: S608S

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page