Publications:

Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.

Internal Medicine (Tokyo, Japan)

Mizokami, Tetsuya T; Fukata, Shuji S; Kogai, Takahiko T; Hishinuma, Akira A; Hamada, Katsuhiko K; Maruta, Tetsushi T; Higashi, Kiichiro K; Tajiri, Junichi J

Publication Date: 2019-09-15

Variant appearance in text: TG: 4177A>T

PubMed Link: 31178475

Variant Present in the following documents:

• Main text
• 1349-7235-58-2669.pdf

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Expression and Mutation Patterns of PBRM1, BAP1 and SETD2 Mirror Specific Evolutionary Subtypes in Clear Cell Renal Cell Carcinoma.

Neoplasia (New York, N.Y.)

Bihr, Svenja S; Ohashi, Riuko R; Moore, Ariane L AL; Rüschoff, Jan H JH; Beisel, Christian C; Hermanns, Thomas T; Mischo, Axel A; Corrò, Claudia C; Beyer, Jörg J; Beerenwinkel, Niko N; Moch, Holger H; Schraml, Peter P

Publication Date: 2019-02

Variant appearance in text: TG: 4177A>T

PubMed Link: 30660076

Variant Present in the following documents:

• mmc3.xls, sheet 1

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