Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.Y441C
Back to variants list

SLC34A1

NM_003052.5:p.Y441C

Associated Papers

Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.

Wang Q et al.

Orphanet Journal of Rare Diseases, 2024

Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

Tan W et al.

Journal of Immunology Research, 2022

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."