APP c.328C>A ;(p.H110N)

Variant ID: 21-27462286-G-T

NM_000484.3(APP):c.328C>A;(p.H110N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The first case of NEUROD1-MODY reported in Latin America.

Molecular Genetics & Genomic Medicine
Abreu, Gabriella de Medeiros GM; Tarantino, Roberta Magalhães RM; Cabello, Pedro Hernan PH; Zembrzuski, Verônica Marques VM; da Fonseca, Ana Carolina Proença ACP; Rodacki, Melanie M; Zajdenverg, Lenita L; Campos Junior, Mário M
Publication Date: 2019-12

Variant appearance in text: AD1: 328C>A
PubMed Link: 31578821
Variant Present in the following documents:
  • Main text
  • MGG3-7-e989.pdf
View BVdb publication page