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SI c.2302-42_2318del
Variant ID: 3-164755796-CCATGGCCTTTTTGCACCCTAATAATTGGAAGATTAAAAACATTCTTAATATTATTGAAG-C
NM_001041.3(
SI
):c.2302-42_2318del
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:
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.
American Journal Of Medical Genetics. Part A
Zolotov, Sagit S; Xing, Chao C; Mahamid, Riad R; Shalata, Adel A; Sheikh-Ahmad, Mohammed M; Garg, Abhimanyu A
Publication Date: 2017-01
Variant appearance in text: SI: 2300_2318del
PubMed Link:
27862896
Variant Present in the following documents:
Main text
View BVdb publication page