Publications:

Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1.

Bmc Medical Genomics

Yang, Lisha L; Fu, Jiewen J; Cheng, Jingliang J; Zhou, Baixu B; Chen, Maomei M; Anuchapreeda, Songyot S; Fu, Junjiang J

Publication Date: 2023-04-24

Variant appearance in text: NF1: 4963delA; Thr1656Glnfs*42

PubMed Link: 37095468

Variant Present in the following documents:

• Main text
• 12920_2023_Article_1514.pdf

View BVdb publication page

Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

Jco Precision Oncology

MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM

Publication Date: 2019

Variant appearance in text: NF1: 4966delA; Thr1656Glnfs*42

PubMed Link: 32783018

Variant Present in the following documents:

• Main text

View BVdb publication page