PC c.118G>A ;(p.V40I)

Variant ID: 11-66639513-C-T

NM_001040716.1(PC):c.118G>A;(p.V40I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A de novo paradigm for male infertility.

Nature Communications
Oud, M S MS; Smits, R M RM; Smith, H E HE; Mastrorosa, F K FK; Holt, G S GS; Houston, B J BJ; de Vries, P F PF; Alobaidi, B K S BKS; Batty, L E LE; Ismail, H H; Greenwood, J J; Sheth, H H; Mikulasova, A A; Astuti, G D N GDN; Gilissen, C C; McEleny, K K; Turner, H H; Coxhead, J J; Cockell, S S; Braat, D D M DDM; Fleischer, K K; D'Hauwers, K W M KWM; Schaafsma, E E; , ; Nagirnaja, L L; Conrad, D F DF; Friedrich, C C; Kliesch, S S; Aston, K I KI; Riera-Escamilla, A A; Krausz, C C; Gonzaga-Jauregui, C C; Santibanez-Koref, M M; Elliott, D J DJ; Vissers, L E L M LELM; Tüttelmann, F F; O'Bryan, M K MK; Ramos, L L; Xavier, M J MJ; van der Heijden, G W GW; Veltman, J A JA
Publication Date: 2022-01-10

Variant appearance in text: PC: 118G>A
PubMed Link: 35013161
Variant Present in the following documents:
  • 41467_2021_27132_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Transcriptomic analysis of longitudinal Burkholderia pseudomallei infecting the cystic fibrosis lung.

Microbial Genomics
Price, Erin P EP; Viberg, Linda T LT; Kidd, Timothy J TJ; Bell, Scott C SC; Currie, Bart J BJ; Sarovich, Derek S DS
Publication Date: 2018-08

Variant appearance in text: PC: V40I
PubMed Link: 29989529
Variant Present in the following documents:
  • Main text
  • mgen-5-194.pdf
View BVdb publication page