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NAT1 c.423G>C ;(p.K141N)
Variant ID: 8-18079979-G-C
NM_000662.5(
NAT1
):c.423G>C;(p.K141N)
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:
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Biomolecules
Palmieri, Ferdinando F; Scarcia, Pasquale P; Monné, Magnus M
Publication Date: 2020-04-23
Variant appearance in text: AAC1: 423G>C
PubMed Link:
32340404
Variant Present in the following documents:
biomolecules-10-00655-s001.pdf
View BVdb publication page