TEK c.844_847del ;(p.P282Tfs*66)

Variant ID: 9-27173303-CCCTG-C

NM_000459.3(TEK):c.844_847del;(p.P282Tfs*66)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genotypes and phenotypes of 162 families with a glomulin mutation.

Molecular Syndromology
Brouillard, P P; Boon, L M LM; Revencu, N N; Berg, J J; Dompmartin, A A; Dubois, J J; Garzon, M M; Holden, S S; Kangesu, L L; Labrèze, C C; Lynch, S A SA; McKeown, C C; Meskauskas, R R; Quere, I I; Syed, S S; Vabres, P P; Wassef, M M; Mulliken, J B JB; Vikkula, M M; ,
Publication Date: 2013-04

Variant appearance in text: VMCM: 844_847del
PubMed Link: 23801931
Variant Present in the following documents:
  • Main text
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