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KDM5A c.2897+106del
Variant ID: 12-427165-CA-C
NM_001042603.1(
KDM5A
):c.2897+106del
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:
Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.
Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019
Variant appearance in text: KDM5A: 2897+106delT
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 18
pone.0210079.s007.xlsx, sheet 19
pone.0210079.s007.xlsx, sheet 4
pone.0210079.s007.xlsx, sheet 21
pone.0210079.s007.xlsx, sheet 22
pone.0210079.s007.xlsx, sheet 20
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: KDM5A: 2897+106del
PubMed Link:
30319441
Variant Present in the following documents:
Table_6.xlsx, sheet 1
Table_7.xlsx, sheet 1
View BVdb publication page