SIDDARAMAPPA PATIL

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Publications (5)

• Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79
  Journal of Human Genetics 2018 DOI: 10.1038/s10038-018-0463-6
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• Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
  American Journal of Medical Genetics Part A 2018 DOI: 10.1002/ajmg.a.38659
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• Williams-Beuren syndrome in diverse populations
  American Journal of Medical Genetics Part A 2018 DOI: 10.1002/ajmg.a.38672
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• Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation
  Journal of Pediatric Genetics 2017 DOI: 10.1055/s-0037-1602386
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• Down syndrome in diverse populations
  American Journal of Medical Genetics Part A 2017 DOI: 10.1002/ajmg.a.38043
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