Publications:

Update on Genetics of Primary Aldosteronism.

Biomedicines

Itcho, Kiyotaka K; Oki, Kenji K; Ohno, Haruya H; Yoneda, Masayasu M

Publication Date: 2021-04-10

Variant appearance in text: FH: I157S

PubMed Link: 33920271

Variant Present in the following documents:

• Main text

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Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.

Journal Of The Endocrine Society

Vaduva, Patricia P; Bonnet, Fideline F; Bertherat, Jérôme J

Publication Date: 2020-09-01

Variant appearance in text: FH: Ile157Ser

PubMed Link: 32783015

Variant Present in the following documents:

• Main text
• bvaa075.pdf

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 470T>G; Ile157Ser

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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