Varaico: Literature-Extracted Genetic Variants

Gene:AP2S1
Variant:p.F4_K18del0
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AP2S1

NM_004069.6:p.F4_K18del0

Associated Papers

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.

Hureaux M et al.

Kidney International, 2019

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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."