PTS c.60C>A ;(p.F20L)

Variant ID: 11-112097226-C-A

NM_000317.2(PTS):c.60C>A;(p.F20L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic etiology and clinical challenges of phenylketonuria.

Human Genomics
Elhawary, Nasser A NA; AlJahdali, Imad A IA; Abumansour, Iman S IS; Elhawary, Ezzeldin N EN; Gaboon, Nagwa N; Dandini, Mohammed M; Madkhali, Abdulelah A; Alosaimi, Wafaa W; Alzahrani, Abdulmajeed A; Aljohani, Fawzia F; Melibary, Ehab M EM; Kensara, Osama A OA
Publication Date: 2022-07-19

Variant appearance in text: PTS: Phe20Leu
PubMed Link: 35854334
Variant Present in the following documents:
  • Main text
  • 40246_2022_Article_398.pdf
View BVdb publication page