Varaico: Literature-Extracted Genetic Variants

Gene:PKD2L1
Variant:p.I520N
Back to variants list

PKD2L1

NM_016112.3:p.I520N

Associated Papers

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.

Ali G et al.

Biomed Research International, 2021

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."