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아주대학교 의학문헌정보센터
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Browsing by Keyword : Frameshift Mutation
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Showing results 1 to 7 of 7
Pub Year
Title
Author(s)
2017
A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
손영배
,
송형근
,
정윤석
,
최용준
2015
Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.
손영배
2003
Frameshift mutations in the bax gene are not involved in development of ovarian endometrioid carcinoma.
장기홍
2002
Functional study of GJB2 in hereditary hearing loss.
문성균
,
정연훈
2019
Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes
장정훈
,
정연훈
2012
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease
이용희
2005
Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.
김대중
,
이관우
1
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아주대학교 의학문헌정보센터
