SI c.46_57del ;(p.L16_I19del)

Variant ID: 3-164793744-CTATGACAAAAAG-C

NM_001041.3(SI):c.46_57del;(p.L16_I19del)

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:

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Frontiers In Molecular Biosciences
Voskoboeva, E Yu EY; Bookina, T M TM; Semyachkina, A N AN; Mikhaylova, S V SV; Vashakmadze, N D ND; Baydakova, G V GV; Zakharova, E Yu EY; Kutsev, S I SI
Publication Date: 2021

Variant appearance in text: SI: 46_57del
PubMed Link: 35141277
Variant Present in the following documents:
  • fmolb-08-783644.pdf
View BVdb publication page