Publications:

Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants.

Frontiers In Oncology

Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Gifoni, Markus Andret Cavalcante MAC; Wotroba, Camila Martins CM; Palmero, Edenir Inez EI; Costa, Eduardo Leite Vieira ELV; Dos Santos, Wellington W; Achatz, Maria Isabel MI

Publication Date: 2022

Variant appearance in text: NF1: 1240C>T

PubMed Link: 35957908

Variant Present in the following documents:

• DataSheet_1.pdf

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Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Human Molecular Genetics

Smith, Miriam J MJ; Walker, James A JA; Shen, Yiping Y; Stemmer-Rachamimov, Anat A; Gusella, James F JF; Plotkin, Scott R SR

Publication Date: 2012-12-15

Variant appearance in text: NF1: 1240C>T

PubMed Link: 22949514

Variant Present in the following documents:

• Main text

View BVdb publication page