PAH c.1199+264G>A

Variant ID: 12-103237160-C-T

NM_000277.1(PAH):c.1199+264G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: PAH: 1199+264G>A; rs2242381
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

American Journal Of Respiratory And Critical Care Medicine
Rivera, Natalia V NV; Ronninger, Marcus M; Shchetynsky, Klementy K; Franke, Andre A; Nöthen, Markus M MM; Müller-Quernheim, Joachim J; Schreiber, Stefan S; Adrianto, Indra I; Karakaya, Bekir B; van Moorsel, Coline H M CH; Navratilova, Zdenka Z; Kolek, Vitezslav V; Rybicki, Benjamin A BA; Iannuzzi, Michael C MC; Petrek, Martin M; Grutters, Jan C JC; Montgomery, Courtney C; Fischer, Annegret A; Eklund, Anders A; Padyukov, Leonid L; Grunewald, Johan J
Publication Date: 2016-05-01

Variant appearance in text: rs2242381
PubMed Link: 26651848
Variant Present in the following documents:
  • Main text
View BVdb publication page