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GWAS Study

Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.

Sung H, Hyland PL, Pemov A et al.

32869517 PubMed ID
GWAS Study Type
171 Participants
83 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SH
Sung H
HP
Hyland PL
PA
Pemov A
SJ
Sabourin JA
BA
Baldwin AM
BS
Bass S
TK
Teshome K
LW
Luo W
WB
Widemann BC
SD
Stewart DR
WA
Wilson AF
Chapter II

Abstract

Summary of the research findings

Neurofibromatosis type 1 (NF1) is a tumor-predisposition disorder that arises due to pathogenic variants in tumor suppressor NF1. NF1 has variable expressivity that may be due, at least in part, from heritable elements such as modifier genes; however, few genetic modifiers have been identified to date.

112 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

171
Total Participants
GWAS
Study Type
Yes
Replicated
59 European ancestry individuals
Replication Participants
European
Ancestry
U.S.
Recruitment Country
Chapter IV

AI-Generated Summary

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