Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.P347S
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ARMC5

NM_001105247.2:p.P347S

Associated Papers

Unexplained Hypokalemia in a Patient With Obesity Harboring an Armadillo Repeat-Containing 5 (ARMC5) Gene Variant: A Case Report.

Taguchi A et al.

Cureus, 2025

GERMLINE DELETION OF ARMC5 IN FAMILIAL PRIMARY MACRONODULAR ADRENAL HYPERPLASIA.

Suzuki S et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2015

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
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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."