Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.D392Splc
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SLC34A1

NM_003052.5:p.D392Splc

Associated Papers

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT et al.

Genome Medicine, 2023

37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM1_ESM.docx

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Cogal AG et al.

Kidney International Reports, 2021

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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."