Publications:

An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy.

Eye (London, England)

Thompson, Dorothy A DA; Handley, Siân E SE; Henderson, Robert H RH; Marmoy, Oliver R OR; Gissen, Paul P

Publication Date: 2021-09

Variant appearance in text: 225: 1266G>C

PubMed Link: 34272513

Variant Present in the following documents:

• 41433_2021_Article_1594.pdf

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: 225: K422N

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page