Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India

Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India

Abstract Neurofibromatosis type 1 (NF1) is a multisystemic hereditary disorder associated with an increased risk of benign and malignant tumor formation predominantly on the skin, bone, and peripheral nervous system. It has been reported that out of all the NF1 cases, more than 95% cases develop the...

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Bibliographic Details
Main Authors: Akshi Spolia, Arshia Angural, Varun Sharma, Shipra, Sushil Razdan, Manoj K. Dhar, Ankit Mahajan, Vijeshwar Verma, Kamal K. Pandita, Swarkar Sharma, Ekta Rai
Format: Article
Language:English
Published: Nature Portfolio 2023-05-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-34941-y

Internet

https://doi.org/10.1038/s41598-023-34941-y

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