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PMID:
23776359
Genetic screening for homozygous and heterozygous familial hypercholesterolemia.
The application of clinical genetics
MC Izar, VA Machado, FA Fonseca
2010
2 variants were identified in this publication
Variant ID
Gene
cDNA
Protein
Consequence
Exon
Intron
1-55523127-G-T
PCSK9
c.1120G>T
p.Asp374Tyr
Missense
7/12
-
2-21229160-C-T
APOB
c.10580G>A
p.Arg3527Gln
Missense
26/29
-