Varaico: Literature-Extracted Genetic Variants

Gene:POP1
Variant:p.A163A
Back to variants list

POP1

NM_001145860.2:p.A163A

Associated Papers

Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.

Guleray Lafci N et al.

European Journal of Human Genetics : Ejhg, 2024

38528055 (PubMed )
Supplement: 41431_2024_1589_MOESM1_ESM.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."