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

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...

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Detalles Bibliográficos
Autores principales: Spolia, Akshi, Angural, Arshia, Sharma, Varun, Shipra, Razdan, Sushil, Dhar, Manoj K., Mahajan, Ankit, Verma, Vijeshwar, Pandita, Kamal K., Sharma, Swarkar, Rai, Ekta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10185681/
https://www.ncbi.nlm.nih.gov/pubmed/37188759
http://dx.doi.org/10.1038/s41598-023-34941-y

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