LDLR c.769_770delinsTA ;(p.R257*)

Variant ID: 19-11217315-CG-TA

NM_000527.4(LDLR):c.769_770delinsTA;(p.R257*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).

Journal Of Child Neurology
Boycott, Kym M KM; Bonnemann, Carsten C; Herz, Joachim J; Neuert, Stephanie S; Beaulieu, Chandree C; Scott, James N JN; Venkatasubramanian, Anuradha A; Parboosingh, Jillian S JS
Publication Date: 2009-10

Variant appearance in text: LDLR: R257X
PubMed Link: 19332571
Variant Present in the following documents:
  • Main text
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