Bibliome.ai browser hg19
Search
About
Stats
FAQ
GPNMB c.1056del ;(p.P353Lfs*20)
Variant ID: 7-23306171-AT-A
NM_002510.2(
GPNMB
):c.1056del;(p.P353Lfs*20)
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:
Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree.
Frontiers In Medicine
Wang, Hui H; Zhong, Zhenyu Z; Wang, Xiuli X; Zheng, Liyun L; Wang, Yifan Y; Wang, Shan S; Liu, Siqi S; Li, Hui H; Guo, Ze Z; Gao, Min M
Publication Date: 2021
Variant appearance in text: GPNMB: 1056delT; Pro353Leufs
PubMed Link:
34926516
Variant Present in the following documents:
Main text
fmed-08-774266.pdf
View BVdb publication page
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.
American Journal Of Human Genetics
Yang, Chi-Fan CF; Lin, Shuan-Pei SP; Chiang, Chien-Ping CP; Wu, Yu-Hung YH; H'ng, Weng Siong WS; Chang, Chun-Ping CP; Chen, Yuan-Tsong YT; Wu, Jer-Yuarn JY
Publication Date: 2018-02-01
Variant appearance in text: GPNMB: 1056del; Pro353Leufs
PubMed Link:
29336782
Variant Present in the following documents:
Main text
View BVdb publication page