ZCCHC14 c.3205+428G>C

Variant ID: 16-87444694-C-G

NM_015144.2(ZCCHC14):c.3205+428G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A genome-wide association study identifies distinct variants associated with pulmonary function among European and African ancestries from the UK Biobank.

Communications Biology
Sinkala, Musalula M; Elsheikh, Samar S M SSM; Mbiyavanga, Mamana M; Cullinan, Joshua J; Mulder, Nicola J NJ
Publication Date: 2023-01-14

Variant appearance in text: rs8045843
PubMed Link: 36641522
Variant Present in the following documents:
  • Main text
  • 42003_2023_Article_4443.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs8045843
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



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: ZCCHC14: 2794+428G>C; rs8045843
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page