Publications:

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: PKD1: T1242M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PKD1: T1242M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

The Journal Of Molecular Diagnostics : Jmd

Tan, Adrian Y AY; Michaeel, Alber A; Liu, Genyan G; Elemento, Olivier O; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H

Publication Date: 2014-03

Variant appearance in text: PKD1: 3725C>T; T1242M

PubMed Link: 24374109

Variant Present in the following documents:

• Main text

View BVdb publication page