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PRRT2 c.977T>A ;(p.L326H)
Variant ID: 16-29825751-T-A
NM_145239.2(
PRRT2
):c.977T>A;(p.L326H)
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:
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Developmental Cell
Link, Nichole N; Chung, Hyunglok H; Jolly, Angad A; Withers, Marjorie M; Tepe, Burak B; Arenkiel, Benjamin R BR; Shah, Priya S PS; Krogan, Nevan J NJ; Aydin, Hatip H; Geckinli, Bilgen B BB; Tos, Tulay T; Isikay, Sedat S; Tuysuz, Beyhan B; Mochida, Ganesh H GH; Thomas, Ajay X AX; Clark, Robin D RD; Mirzaa, Ghayda M GM; Lupski, James R JR; Bellen, Hugo J HJ
Publication Date: 2019-12-16
Variant appearance in text: PKC: L326H
PubMed Link:
31735666
Variant Present in the following documents:
Main text
View BVdb publication page