In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function

Hennekam Lymphangiectasia–Lymphedema Syndrome 3 (HKLLS3) is a rare genetical disorder caused by mutations in a few genes including ADAMTS3. It is characterized by lymphatic dysplasia, intestinal lymphangiectasia, severe lymphedema and distinctive facial appearance. Up till now, no extensive studies...

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Detalles Bibliográficos
Autores principales: Shinwari, Khyber, Wu, Yurong, Rehman, Hafiz Muzzammel, Xiao, Ningkun, Bolkov, Mikhail, Tuzankina, Irina, Chereshnev, Valery
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10268432/
https://www.ncbi.nlm.nih.gov/pubmed/37322437
http://dx.doi.org/10.1186/s12859-023-05361-6

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