Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.I157S
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FH

NM_000143.4:p.I157S

Associated Papers

Familial hyperaldosteronism type III a novel case and review of literature.

Pons Fernández N et al.

Reviews in Endocrine & Metabolic Disorders, 2019

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.

Muller M et al.

Clinical Genetics, 2017

Progress in the identification of responsible genes and molecular mechanisms in primary aldosteronism.

McManus F et al.

Expert Review of Endocrinology & Metabolism, 2014

Role of KCNJ5 in familial and sporadic primary aldosteronism.

Mulatero P et al.

Nature Reviews. Endocrinology, 2013

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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."