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HR c.1585G>A ;(p.E529K)
Variant ID: 8-21982989-C-T
NM_005144.4(
HR
):c.1585G>A;(p.E529K)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
Publications:
Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination.
The Journal Of Biological Chemistry
Rahman, Md Maminur MM; Mohiuddin, Mohiuddin M; Shamima Keka, Islam I; Yamada, Kousei K; Tsuda, Masataka M; Sasanuma, Hiroyuki H; Andreani, Jessica J; Guerois, Raphael R; Borde, Valerie V; Charbonnier, Jean-Baptiste JB; Takeda, Shunichi S
Publication Date: 2020-12-18
Variant appearance in text: HR: E529K
PubMed Link:
33453991
Variant Present in the following documents:
Main text
View BVdb publication page
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
Journal Of Inherited Metabolic Disease
Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V
Publication Date: 2011-02
Variant appearance in text: HR: E529K
PubMed Link:
20821054
Variant Present in the following documents:
10545_2011_Article_9371.pdf
View BVdb publication page