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Shumaila Zulfiqar

National Institute for Biotechnology and Genetic Engineering

Genetics
Exome sequencing
Medicine
Biology
Missense mutation

3

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19

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Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family

2021 Journal of Clinical Neuroscience
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A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

2017 European Journal of Human Genetics
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