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.




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
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