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: C1051*

PubMed Link: 31178475

Variant Present in the following documents:

• Main text
• 1349-7235-58-2669.pdf

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Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics

Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A

Publication Date: 2019-01-10

Variant appearance in text: TG: 3153T>A

PubMed Link: 30630528

Variant Present in the following documents:

• 40246_2018_188_MOESM3_ESM.xlsx, sheet 1

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