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ALK c.2989A>G ;(p.M997V)
Variant ID: 2-29449866-T-C
NM_004304.4(
ALK
):c.2989A>G;(p.M997V)
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:
A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2.
Journal Of Advanced Research
Hemwong, Nalinee N; Phokaew, Chureerat C; Srichomthong, Chalurmpon C; Tongkobpetch, Siraprapa S; Srilanchakon, Khomsak K; Supornsilchai, Vichit V; Suphapeetiporn, Kanya K; Porntaveetus, Thantrira T; Shotelersuk, Vorasuk V
Publication Date: 2020-01
Variant appearance in text: ALK: M997V
PubMed Link:
32071780
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page