Bibliome.ai browser hg19
Search
About
Stats
FAQ
ALK c.83G>T ;(p.R28L)
Variant ID: 2-30143443-C-A
NM_004304.4(
ALK
):c.83G>T;(p.R28L)
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:
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.
Italian Journal Of Pediatrics
Zhang, Ying Y; Nie, Yanyan Y; Mu, Yu Y; Zheng, Jie J; Xu, Xiaowei X; Zhang, Fang F; Shu, Jianbo J; Liu, Yang Y
Publication Date: 2022-05-12
Variant appearance in text: ALK: 83G>T; R28L
PubMed Link:
35550617
Variant Present in the following documents:
13052_2022_Article_1248.pdf
View BVdb publication page
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
3 Biotech
Rawal, Rakesh M RM; Joshi, Madhvi N MN; Bhargava, Poonam P; Shaikh, Inayat I; Pandit, Aanal S AS; Patel, Riddhi P RP; Patel, Shanaya S; Kothari, Kiran K; Shah, Manoj M; Saxena, Akshay A; Bagatharia, Snehal B SB
Publication Date: 2015-10
Variant appearance in text: ALK: R28L
PubMed Link:
28324520
Variant Present in the following documents:
13205_2014_267_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page