Varaico: Literature-Extracted Genetic Variants

Gene:AP2S1
Variant:p.R60H
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AP2S1

NM_004069.6:p.R60H

Associated Papers

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

Howles SA et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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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."