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Genomics of rare genetic diseases-experiences from India.
Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5.
Hum Genomics. 2019.
PMID: 31554517
Free PMC article.
Review.
A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis.
Thottath J, Vellarikkal SK, Jayarajan R, Verma A, Manamel M, Singh A, Rajendran VR, Sivasubbu S, Scaria V.
Thottath J, et al.
Neurol Genet. 2019 Apr 11;5(3):e302. doi: 10.1212/NXG.0000000000000302. eCollection 2019 Jun.
Neurol Genet. 2019.
PMID: 31086824
Free PMC article.
No abstract available.
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