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F8 c.353del ;(p.H118Lfs*43)
Variant ID: X-154225283-AT-A
NM_000132.3(
F8
):c.353del;(p.H118Lfs*43)
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:
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
American Journal Of Human Genetics
Nakajima, Masahiro M; Mizumoto, Shuji S; Miyake, Noriko N; Kogawa, Ryo R; Iida, Aritoshi A; Ito, Hironori H; Kitoh, Hiroshi H; Hirayama, Aya A; Mitsubuchi, Hiroshi H; Miyazaki, Osamu O; Kosaki, Rika R; Horikawa, Reiko R; Lai, Angeline A; Mendoza-Londono, Roberto R; Dupuis, Lucie L; Chitayat, David D; Howard, Andrew A; Leal, Gabriela F GF; Cavalcanti, Denise D; Tsurusaki, Yoshinori Y; Saitsu, Hirotomo H; Watanabe, Shigehiko S; Lausch, Ekkehart E; Unger, Sheila S; Bonafé, Luisa L; Ohashi, Hirofumi H; Superti-Furga, Andrea A; Matsumoto, Naomichi N; Sugahara, Kazuyuki K; Nishimura, Gen G; Ikegawa, Shiro S
Publication Date: 2013-06-06
Variant appearance in text: F8: 353delA
PubMed Link:
23664117
Variant Present in the following documents:
Main text
View BVdb publication page