MED23 c.506A>G ;(p.Y169C)

Variant ID: 6-131941859-T-C

NM_004830.3(MED23):c.506A>G;(p.Y169C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Molecular Psychiatry
Riazuddin, S S; Hussain, M M; Razzaq, A A; Iqbal, Z Z; Shahzad, M M; Polla, D L DL; Song, Y Y; van Beusekom, E E; Khan, A A AA; Tomas-Roca, L L; Rashid, M M; Zahoor, M Y MY; Wissink-Lindhout, W M WM; Basra, M A R MAR; Ansar, M M; Agha, Z Z; van Heeswijk, K K; Rasheed, F F; Van de Vorst, M M; Veltman, J A JA; Gilissen, C C; Akram, J J; Kleefstra, T T; Assir, M Z MZ; , ; Grozeva, D D; Carss, K K; Raymond, F L FL; O'Connor, T D TD; Riazuddin, S A SA; Khan, S N SN; Ahmed, Z M ZM; de Brouwer, A P M APM; van Bokhoven, H H; Riazuddin, S S
Publication Date: 2017-11

Variant appearance in text: MED23: 506A>G; Tyr169Cys
PubMed Link: 27457812
Variant Present in the following documents:
  • Main text
  • 41380_2017_Article_BFmp2016109.pdf
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