TEK c.1451A>C ;(p.K484T)

Variant ID: 9-27190650-A-C

NM_000459.3(TEK):c.1451A>C;(p.K484T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.

Bmc Medical Genetics
Netravathi, Manjunath M; Kumari, Renu R; Kapoor, Saketh S; Dakle, Pushkar P; Dwivedi, Manish Kumar MK; Roy, Sumitabho Deb SD; Pandey, Paritosh P; Saini, Jitender J; Ramakrishna, Anil A; Navalli, Devaraddi D; Satishchandra, Parthasarathy P; Pal, Pramod Kumar PK; Kumar, Arun A; Faruq, Mohammed M
Publication Date: 2015-02-10

Variant appearance in text: TEK: 1451A>C
PubMed Link: 25928698
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_151.pdf
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