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APAF1 c.127_129delinsTTT ;(p.V43F)
Variant ID: 12-99042264-GTA-TTT
NM_181861.1(
APAF1
):c.127_129delinsTTT;(p.V43F)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.
Frontiers In Genetics
Jiang, Peng P; Hu, Yaofei Y; Wang, Yiqi Y; Zhang, Jin J; Zhu, Qinghong Q; Bai, Lin L; Tong, Qiang Q; Li, Tao T; Zhao, Liang L
Publication Date: 2019
Variant appearance in text: APAF1: V43F
PubMed Link:
31440271
Variant Present in the following documents:
Table_1.xlsx, sheet 5
View BVdb publication page