HR c.2612C>T ;(p.P871L)

Variant ID: 8-21978019-G-A

NM_005144.4(HR):c.2612C>T;(p.P871L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Irish Endocrine Society 44th Annual Meeting.

Irish Journal Of Medical Science
Publication Date: 2021-04

Variant appearance in text: HR: 2612C>T
PubMed Link: 33822312
Variant Present in the following documents:
  • 11845_2021_Article_2557.pdf
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: 2612C>T; Pro871Leu
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
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Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017

Variant appearance in text: HR: 2612C>T
PubMed Link: 28590501
Variant Present in the following documents:
  • 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
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Association between BRCA1 P871L polymorphism and cancer risk: evidence from a meta-analysis.

Oncotarget
Miao, Limin L; Yu, Yang Y; Ji, Yefeng Y; Zhang, Bo B; Yuan, Zhiyao Z; Du, Yifei Y; Zhu, Longbiao L; Wang, Ruixia R; Chen, Ning N; Yuan, Hua H
Publication Date: 2017-05-02

Variant appearance in text: HR: P871L
PubMed Link: 28427168
Variant Present in the following documents:
  • Main text
View BVdb publication page