NF1 c.5450G>A ;(p.C1817Y)

Variant ID: 17-29654698-G-A

NM_001042492.2(NF1):c.5450G>A;(p.C1817Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One
Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D
Publication Date: 2012

Variant appearance in text: NF1: 5450G>A
PubMed Link: 22558107
Variant Present in the following documents:
  • Main text
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