LDLR c.148_149delinsTG ;(p.A50C)

Variant ID: 19-11210979-GC-TG

NM_000527.4(LDLR):c.148_149delinsTG;(p.A50C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Curative Ex Vivo Hepatocyte-Directed Gene Editing in a Mouse Model of Hereditary Tyrosinemia Type 1.

Human Gene Therapy
VanLith, Caitlin C; Guthman, Rebekah R; Nicolas, Clara T CT; Allen, Kari K; Du, Zeji Z; Joo, Dong Jin DJ; Nyberg, Scott L SL; Lillegard, Joseph B JB; Hickey, Raymond D RD
Publication Date: 2018-11

Variant appearance in text: LDLR: A50C
PubMed Link: 29764210
Variant Present in the following documents:
  • Main text
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