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ALK c.163_165delinsTTT ;(p.A55F)
Variant ID: 2-30143361-TGC-AAA
NM_004304.4(
ALK
):c.163_165delinsTTT;(p.A55F)
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 blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.
Nature Communications
Katagiri, Takenobu T; Tsukamoto, Sho S; Kuratani, Mai M; Tsuji, Shinnosuke S; Nakamura, Kensuke K; Ohte, Satoshi S; Kawaguchi, Yoshiro Y; Takaishi, Kiyosumi K
Publication Date: 2023-05-25
Variant appearance in text: ALK: A55F
PubMed Link:
37231012
Variant Present in the following documents:
Main text
41467_2023_Article_38746.pdf
41467_2023_38746_MOESM1_ESM.pdf
View BVdb publication page
False-negative programmed death-ligand 1 immunostaining in ethanol-fixed endobronchial ultrasound-guided transbronchial needle aspiration specimens of non-small-cell lung cancer patients.
Histopathology
Koomen, Bregje M BM; Vreuls, Willem W; de Boer, Mirthe M; de Ruiter, Emma J EJ; Hoelters, Juergen J; Vink, Aryan A; Willems, Stefan M SM
Publication Date: 2021-10
Variant appearance in text: ALK: A55F
PubMed Link:
33772818
Variant Present in the following documents:
Main text
View BVdb publication page