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Article

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

BMC bioinformatics - 15 Jun 2023

Shinwari Khyber, Wu Yurong, Rehman Hafiz Muzzammel, Xiao Ningkun, Bolkov Mikhail, Tuzankina Irina, Chereshnev Valery

Abstract excerpt

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 have been conducted to elucidate the mechanism of the disease caused by various mutations. As a preliminary...

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PMID: 37322437
DOI: 10.1186/s12859-023-05361-6
PMCID: PMC10268432

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