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PBX1 c.265+75554G>A
Variant ID: 1-164608102-G-A
NM_002585.3(
PBX1
):c.265+75554G>A
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:
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
American Journal Of Human Genetics
Brancati, Francesco F; Fortugno, Paola P; Bottillo, Irene I; Lopez, Marc M; Josselin, Emmanuelle E; Boudghene-Stambouli, Omar O; Agolini, Emanuele E; Bernardini, Laura L; Bellacchio, Emanuele E; Iannicelli, Miriam M; Rossi, Alfredo A; Dib-Lachachi, Amina A; Stuppia, Liborio L; Palka, Giandomenico G; Mundlos, Stefan S; Stricker, Sigmar S; Kornak, Uwe U; Zambruno, Giovanna G; Dallapiccola, Bruno B
Publication Date: 2010-08-13
Variant appearance in text: rs16833478
PubMed Link:
20691405
Variant Present in the following documents:
Main text
View BVdb publication page