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LDLR c.105A>T ;(p.Q35H)
Variant ID: 19-11210936-A-T
NM_000527.4(
LDLR
):c.105A>T;(p.Q35H)
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:
Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.
Frontiers In Genetics
Moradi, Arman A; Maleki, Majid M; Ghaemmaghami, Zahra Z; Khajali, Zahra Z; Noohi, Feridoun F; Moghadam, Maryam Hosseini MH; Kalyinia, Samira S; Mowla, Seyed Javad SJ; Seidah, Nabil G NG; Malakootian, Mahshid M
Publication Date: 2021
Variant appearance in text: LDLR: 105A>T
PubMed Link:
33732287
Variant Present in the following documents:
Main text
fgene-12-625959.pdf
View BVdb publication page