Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.D49N
Back to variants list

LTBP2

NM_000428.3:p.D49N

Associated Papers

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30377383 (PubMed )
Supplement: 41436_2018_345_MOESM1_ESM.docx

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."