FOXD4 c.227C>A ;(p.P76Q)

Variant ID: 9-117893-G-T

NM_207305.4(FOXD4):c.227C>A;(p.P76Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Long-read trio sequencing of individuals with unsolved intellectual disability.

European Journal Of Human Genetics : Ejhg
Pauper, Marc M; Kucuk, Erdi E; Wenger, Aaron M AM; Chakraborty, Shreyasee S; Baybayan, Primo P; Kwint, Michael M; van der Sanden, Bart B; Nelen, Marcel R MR; Derks, Ronny R; Brunner, Han G HG; Hoischen, Alexander A; Vissers, Lisenka E L M LELM; Gilissen, Christian C
Publication Date: 2021-04

Variant appearance in text: FOXD4: 227C>A
PubMed Link: 33257779
Variant Present in the following documents:
  • 41431_2020_770_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Long-read trio sequencing of individuals with unsolved intellectual disability.

European Journal Of Human Genetics : Ejhg
Pauper, Marc M; Kucuk, Erdi E; Wenger, Aaron M AM; Chakraborty, Shreyasee S; Baybayan, Primo P; Kwint, Michael M; van der Sanden, Bart B; Nelen, Marcel R MR; Derks, Ronny R; Brunner, Han G HG; Hoischen, Alexander A; Vissers, Lisenka E L M LELM; Gilissen, Christian C
Publication Date: 2021-04

Variant appearance in text: FOXD4: 227C>A
PubMed Link: 33257779
Variant Present in the following documents:
  • 41431_2020_770_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page