TPRN c.566C>G ;(p.P189R)

Variant ID: 9-140094598-G-C

NM_001128228.2(TPRN):c.566C>G;(p.P189R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Human Genetics
Florentine, Michelle M MM; Rouse, Stephanie L SL; Stephans, Jihyun J; Conrad, David D; Czechowicz, Josephine J; Matthews, Ian R IR; Meyer, Anna K AK; Nadaraja, Garani S GS; Parikh, Rajan R; Virbalas, Jordan J; Weinstein, Jacqueline E JE; Chan, Dylan K DK
Publication Date: 2022-04

Variant appearance in text: TPRN: 566C>G; P189R
PubMed Link: 34515852
Variant Present in the following documents:
  • 439_2021_2338_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page