HR c.436C>T ;(p.L146F)

Variant ID: 8-21986248-G-A

NM_005144.4(HR):c.436C>T;(p.L146F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structural and functional role of Domain I for the insecticidal activity of the Vip3Aa protein from Bacillus thuringiensis.

Microbial Biotechnology
Lázaro-Berenguer, Maria M; Paredes-Martínez, Francisco F; Bel, Yolanda Y; Núñez-Ramírez, Rafael R; Arias-Palomo, Ernesto E; Casino, Patricia P; Ferré, Juan J
Publication Date: 2022-10

Variant appearance in text: HR: L146F
PubMed Link: 35830334
Variant Present in the following documents:
  • Main text
  • MBT2-15-2607.pdf
View BVdb publication page



Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.

European Journal Of Endocrinology
Saengkaew, Tansit T; Patel, Heena R HR; Banerjee, Kausik K; Butler, Gary G; Dattani, Mehul T MT; McGuigan, Michael M; Storr, Helen L HL; Willemsen, Ruben H RH; Dunkel, Leo L; Howard, Sasha R SR
Publication Date: 2021-10-08

Variant appearance in text: HR: 436C>T
PubMed Link: 34403359
Variant Present in the following documents:
  • EJE-21-0387.pdf
View BVdb publication page



Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.

Scientific Reports
Fransson, Susanne S; Martinez-Monleon, Angela A; Johansson, Mathias M; Sjöberg, Rose-Marie RM; Björklund, Caroline C; Ljungman, Gustaf G; Ek, Torben T; Kogner, Per P; Martinsson, Tommy T
Publication Date: 2020-12-31

Variant appearance in text: HR: L146F
PubMed Link: 33384420
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_78370.pdf
View BVdb publication page