Kumar Gautam Singh

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Publications (8)

• Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population
  Journal of Applied Genetics 2024 DOI: 10.1007/s13353-024-00855-2
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• Missense mutation (Ser 654 Leu) in ITGA8 gene leads to renal hypodysplasia: A Case Report
  2023 DOI: 10.21203/rs.3.rs-3042052/v1
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• Novel nonsense mutation in COL4A4 associated with Alport syndrome
  Gene Reports 2023 DOI: 10.1016/j.genrep.2023.101832
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• Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy
  Egyptian Journal of Medical Human Genetics 2022 DOI: 10.1186/s43042-022-00284-y
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• Exome sequencing reveals a novel splice site variant in the RPS26 gene in a patient with suspected Diamond-Blackfan anemia
  Polymorphism 2022
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• Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing
  Genomics 2019 DOI: 10.1016/j.ygeno.2018.07.005
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• Gene network driven probable drug target identification: An in-silico study on Parkinson’s disease
  International Parkinson and Movement Disorder Society, 20th International Conference 2016
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• 175 Pathway enrichment analysis of acute myeloid leukemia pathogenesis: a focus on JAK-STAT signalling pathway
  Journal of biomolecular Structure & Dynamics 33(sup1) 2015
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