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SI c.3955G>C ;(p.V1319L)
Variant ID: 3-164732955-C-G
NM_001041.3(
SI
):c.3955G>C;(p.V1319L)
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:
Biometric and Structural Ocular Manifestations of Anterior Megalophthalmos.
Frontiers In Medicine
Chen, Tian-Hui TH; Chen, Ze-Xu ZX; Zhang, Min M; Chen, Jia-Hui JH; Lan, Li-Na LN; Jiang, Yongxiang Y
Publication Date: 2022
Variant appearance in text: SI: 3955G>C
PubMed Link:
35665341
Variant Present in the following documents:
fmed-09-732452.pdf
View BVdb publication page