Publications:

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: CALR: 58G>A; A20T

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

The mitochondrial DNA Northeast Asia CZD haplogroup is associated with good disease-free survival among male oral squamous cell carcinoma patients.

Plos One

Lai, Chih-Hsiung CH; Huang, Shiang-Fu SF; Chen, I-How IH; Liao, Chun-Ta CT; Wang, Hung-Ming HM; Hsieh, Ling-Ling LL

Publication Date: 2012

Variant appearance in text: CRT: A20T

PubMed Link: 23185408

Variant Present in the following documents:

• Main text
• pone.0049684.pdf

View BVdb publication page