HR c.1245C>A ;(p.G415=)

Variant ID: 8-21984710-G-T

NM_005144.4(HR):c.1245C>A;(p.G415=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Through the Looking-Glass: Reevaluating DHEA Metabolism Through HSD3B1 Genetics.

Trends In Endocrinology And Metabolism: Tem
Naelitz, Bryan D BD; Sharifi, Nima N
Publication Date: 2020-09

Variant appearance in text: HR: 1245C>A
PubMed Link: 32565196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: HR: 1245C>A
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page