Publications:

Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Frontiers In Genetics

Gatua, Mercy M; Navari, Mohsen M; Ong'ondi, Matilda M; Onyango, Noel N; Kaggia, Serah S; Rogena, Emily E; Visani, Giuseppe G; Abinya, Nicholas A NA; Piccaluga, Pier Paolo PP

Publication Date: 2022

Variant appearance in text: NF1: 4943C>T; T1648I

PubMed Link: 35836575

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 2

View BVdb publication page

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports

Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F

Publication Date: 2022-01-17

Variant appearance in text: NF1: 4943C>T; Thr1648Ile; rs376655102

PubMed Link: 35039564

Variant Present in the following documents:

• Main text
• 41598_2022_Article_4791.pdf
• 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports

Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F

Publication Date: 2022-01-17

Variant appearance in text: NF1: 4943C>T; Thr1648Ile; rs376655102

PubMed Link: 35039564

Variant Present in the following documents:

• Main text
• 41598_2022_Article_4791.pdf
• 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: NF1: 4943C>T; Thr1648Ile; rs376655102

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs376655102

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page