Publications:

Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Frontiers In Oncology

Butz, Henriett H; Lövey, József J; Szentkereszty, Márton M; Bozsik, Anikó A; Tóth, Erika E; Patócs, Attila A

Publication Date: 2022

Variant appearance in text: rs200685331

PubMed Link: 35419288

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology

Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP

Publication Date: 2021

Variant appearance in text: rs200685331

PubMed Link: 34692690

Variant Present in the following documents:

• Table_2.xlsx, sheet 3

View BVdb publication page