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VCAN c.7994A>T ;(p.H2665L)
Variant ID: 5-82836816-A-T
NM_004385.4(
VCAN
):c.7994A>T;(p.H2665L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
Italian Journal Of Pediatrics
Salvatore, Marco M; Polizzi, Agata A; De Stefano, Maria Chiara MC; Floridia, Giovanna G; Baldovino, Simone S; Roccatello, Dario D; Sciascia, Savino S; Menegatti, Elisa E; Remuzzi, Giuseppe G; Daina, Erica E; Iatropoulos, Paraskevas P; Bembi, Bruno B; Da Riol, Rosalia Maria RM; Ferlini, Alessandra A; Neri, Marcella M; Novelli, Giuseppe G; Sangiuolo, Federica F; Brancati, Francesco F; Taruscio, Domenica D
Publication Date: 2020-09-14
Variant appearance in text: CSPG2: 7994A>T
PubMed Link:
32928283
Variant Present in the following documents:
Main text
13052_2020_Article_883.pdf
View BVdb publication page
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Frontiers In Genetics
Bigoni, Stefania S; Neri, Marcella M; Scotton, Chiara C; Farina, Roberto R; Sabatelli, Patrizia P; Jiang, Chongyi C; Zhang, Jianguo J; Falzarano, Maria Sofia MS; Rossi, Rachele R; Ognibene, Davide D; Selvatici, Rita R; Gualandi, Francesca F; Bosshardt, Dieter D; Perri, Paolo P; Campa, Claudio C; Brancati, Francesco F; Salvatore, Marco M; De Stefano, Maria Chiara MC; Taruscio, Domenica D; Trombelli, Leonardo L; Fang, Mingyan M; Ferlini, Alessandra A
Publication Date: 2018
Variant appearance in text: VCAN: 7994A>T
PubMed Link:
30740127
Variant Present in the following documents:
Main text
fgene-09-00723.pdf
View BVdb publication page