Publications:

Exome sequencing in families with chronic central serous chorioretinopathy.

Molecular Genetics & Genomic Medicine

Schellevis, Rosa L RL; van Dijk, Elon H C EHC; Breukink, Myrte B MB; Keunen, Jan E E JEE; Santen, Gijs W E GWE; Hoyng, Carel B CB; de Jong, Eiko K EK; Boon, Camiel J F CJF; den Hollander, Anneke I AI

Publication Date: 2019-04

Variant appearance in text: rs61758735

PubMed Link: 30724488

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs61758735

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13

View BVdb publication page