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ALK c.370T>C ;(p.S124P)
Variant ID: 2-30143156-A-G
NM_004304.4(
ALK
):c.370T>C;(p.S124P)
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:
Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.
Molecular Vision
Yaylacioglu Tuncay, Fulya F; Kayman Kurekci, Gülsüm G; Guntekin Ergun, Sezen S; Pasaoglu, Ozge Tugce OT; Akata, Rustu Fikret RF; Dincer, Pervin Rukiye PR
Publication Date: 2016
Variant appearance in text: ALK: 370T>C
PubMed Link:
27829782
Variant Present in the following documents:
Main text
mv-v22-1267.pdf
View BVdb publication page