Varaico: Literature-Extracted Genetic Variants

Gene:SUN1
Variant:p.T112M
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SUN1

NM_001130965.3:p.T112M

Associated Papers

Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.

Lucas C et al.

The Journal of Clinical Investigation, 2023

36538378 (PubMed )
Supplement: jci-133-164915-s007.pdf

Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.

Kishore A et al.

Human Genetics, 2018

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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."