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

Scientific reports - 15 May 2023

Spolia Akshi, Angural Arshia, Sharma Varun, Shipra, Razdan Sushil, Dhar Manoj K, Mahajan Ankit, Verma Vijeshwar, Pandita Kamal K, Sharma Swarkar, Rai Ekta

Abstract excerpt

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 disease due to heterozygous loss-of-function variants in Neurofibromin (NF1) gene. However, identification of NF1 causative...

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PMID: 37188759
DOI: 10.1038/s41598-023-34941-y
PMCID: PMC10185681

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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