APP c.385_387delinsATG ;(p.V129M)

Variant ID: 21-27425633-AAC-CAT

NM_000484.3(APP):c.385_387delinsATG;(p.V129M)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

Journal Of Clinical Pathology
Chyra Kufova, Zuzana Z; Sevcikova, Tereza T; Januska, Jaroslav J; Vojta, Petr P; Boday, Arpad A; Vanickova, Pavla P; Filipova, Jana J; Growkova, Katerina K; Jelinek, Tomas T; Hajduch, Marian M; Hajek, Roman R
Publication Date: 2018-08

Variant appearance in text: APP: Val129Met
PubMed Link: 29455155
Variant Present in the following documents:
  • Main text
View BVdb publication page