Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.R29H
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LDLRAP1

NM_015627.3:p.R29H

Associated Papers

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.

Stoll C et al.

Genetic Counseling (geneva, Switzerland), 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."