Publications:

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Medrxiv : The Preprint Server For Health Sciences

Lewis, Morag A MA; Schulte, Jennifer J; Matthews, Lois L; Vaden, Kenneth I KI; Steves, Claire J CJ; Williams, Frances M K FMK; Schulte, Bradley A BA; Dubno, Judy R JR; Steel, Karen P KP

Publication Date: 2023-04-29

Variant appearance in text: rs34350728

PubMed Link: 37163093

Variant Present in the following documents:

• nihpp-2023.04.27.23289040v1.pdf

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: rs34350728

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs34350728

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page