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C12orf43 c.362-220T>G
Variant ID: 12-121443116-A-C
NM_022895.1(
C12orf43
):c.362-220T>G
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: rs1169314
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page
Improved Progression-Free Survival in Irinotecan-Treated Metastatic Colorectal Cancer Patients Carrying the HNF1A Coding Variant p.I27L.
Frontiers In Pharmacology
Labriet, Adrien A; De Mattia, Elena E; Cecchin, Erika E; Lévesque, Éric É; Jonker, Derek D; Couture, Félix F; Buonadonna, Angela A; D'Andrea, Mario M; Villeneuve, Lyne L; Toffoli, Giuseppe G; Guillemette, Chantal C
Publication Date: 2017
Variant appearance in text: rs1169314
PubMed Link:
29066969
Variant Present in the following documents:
Table_1.pdf
View BVdb publication page