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DNAH11 c.5825G>C ;(p.G1942A)
Variant ID: 7-21727046-G-C
NM_001277115.1(
DNAH11
):c.5825G>C;(p.G1942A)
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:
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.
Annals Of Translational Medicine
Lu, Qiang Q; Shang, Liang L; Tian, Wo Tu WT; Cao, Li L; Zhang, Xue X; Liu, Qing Q
Publication Date: 2020-01
Variant appearance in text: DNAH11: 5825G>C; G1942A
PubMed Link:
32055599
Variant Present in the following documents:
Main text
View BVdb publication page