Publications:

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.

Frontiers In Pediatrics

Calvache, Carlos A CA; Vásquez, Estefanía C EC; Romero, Vanessa I VI; Hosomichi, Kazuyoshi K; Pozo, Juan C JC

Publication Date: 2022

Variant appearance in text: rs35762773

PubMed Link: 36467484

Variant Present in the following documents:

• Datasheet1.pdf

View BVdb publication page

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Scientific Reports

Wang, Yimin Y; Du, Xiaonan X; Bin, Rao R; Yu, Shanshan S; Xia, Zhezhi Z; Zheng, Guo G; Zhong, Jianmin J; Zhang, Yunjian Y; Jiang, Yong-Hui YH; Wang, Yi Y

Publication Date: 2017-01-11

Variant appearance in text: rs35762773

PubMed Link: 28074849

Variant Present in the following documents:

• srep40319-s4.xls, sheet 1

View BVdb publication page

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs35762773

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page