Bibliome.ai browser hg19
Search
About
Stats
FAQ
GAA c.83_86del ;(p.G28Afs*14)
Variant ID: 17-78078468-GGGCA-G
NM_000152.3(
GAA
):c.83_86del;(p.G28Afs*14)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Journal Of Cardiovascular Development And Disease
Pezzoli, Laura L; Pezzani, Lidia L; Bonanomi, Ezio E; Marrone, Chiara C; Scatigno, Agnese A; Cereda, Anna A; Bedeschi, Maria Francesca MF; Selicorni, Angelo A; Gasperini, Serena S; Bini, Paolo P; Maitz, Silvia S; Maccioni, Carla C; Pedron, Cristina C; Colombo, Lorenzo L; Marchetti, Daniela D; Bellini, Matteo M; Lincesso, Anna Rita AR; Perego, Loredana L; Pingue, Monica M; Della Malva, Nunzia N; Mangili, Giovanna G; Ferrazzi, Paolo P; Iascone, Maria M
Publication Date: 2021-12-21
Variant appearance in text: GAA: 83_86del
PubMed Link:
35050212
Variant Present in the following documents:
jcdd-09-00002.pdf
View BVdb publication page
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Journal Of Cardiovascular Development And Disease
Pezzoli, Laura L; Pezzani, Lidia L; Bonanomi, Ezio E; Marrone, Chiara C; Scatigno, Agnese A; Cereda, Anna A; Bedeschi, Maria Francesca MF; Selicorni, Angelo A; Gasperini, Serena S; Bini, Paolo P; Maitz, Silvia S; Maccioni, Carla C; Pedron, Cristina C; Colombo, Lorenzo L; Marchetti, Daniela D; Bellini, Matteo M; Lincesso, Anna Rita AR; Perego, Loredana L; Pingue, Monica M; Della Malva, Nunzia N; Mangili, Giovanna G; Ferrazzi, Paolo P; Iascone, Maria M
Publication Date: 2021-12-21
Variant appearance in text: GAA: 83_86del
PubMed Link:
35050212
Variant Present in the following documents:
jcdd-09-00002.pdf
View BVdb publication page