Publications:

A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.

Oncotarget

Fang, Weiyuan W; Song, Peng P; Xie, Xinbao X; Wang, Jianshe J; Lu, Yi Y; Li, Gang G; Abuduxikuer, Kuerbanjiang K

Publication Date: 2017-10-13

Variant appearance in text: HP: 34C>T

PubMed Link: 29137425

Variant Present in the following documents:

• Main text
• oncotarget-08-84309.pdf

View BVdb publication page

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Human Mutation

Lemos, Manuel C MC; Thakker, Rajesh V RV

Publication Date: 2015-01

Variant appearance in text: HP: 34C>T

PubMed Link: 25219572

Variant Present in the following documents:

• humu0036-0011-sd1.pdf

View BVdb publication page