Spolia A - Search Results

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Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Angural A, Spolia A, Mahajan A, Verma V, Sharma A, Kumar P, Dhar MK, Pandita KK, Rai E, Sharma S. Angural A, et al. Among authors: spolia a. Front Genet. 2020 Apr 30;11:415. doi: 10.3389/fgene.2020.00415. eCollection 2020. Front Genet. 2020. PMID: 32425985 Free PMC article. Review.

A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications.

Angural A, Sharma I, Pandoh P, Sharma V, Spolia A, Rai E, Singh V, Razdan S, Pandita KK, Sharma S. Angural A, et al. Among authors: spolia a. Mitochondrion. 2019 May;46:209-213. doi: 10.1016/j.mito.2018.06.005. Epub 2018 Jun 19. Mitochondrion. 2019. PMID: 29929013

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

Spolia A, Angural A, Sharma V, Shipra, Razdan S, Dhar MK, Mahajan A, Verma V, Pandita KK, Sharma S, Rai E. Spolia A, et al. Sci Rep. 2023 May 15;13(1):7852. doi: 10.1038/s41598-023-34941-y. Sci Rep. 2023. PMID: 37188759 Free PMC article.

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