Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA5
Variant:p.P163L
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CHRNA5

NM_000745.4:p.P163L

Associated Papers

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Bouhouche A et al.

Case Reports in Genetics, 2018

Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans.

Olfson E et al.

Molecular Psychiatry, 2016

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C et al.

Amino Acids, 2015

26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
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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."