Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
2019 · BMC Medical Genetics · 25 citations
https://doi.org/10.1186/s12881-019-0872-1
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Gaurav V. Harlalka
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Gaurav V. Harlalka is an academic researcher from Royal Devon & Exeter NHS Foundation Trust. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & RNA regulation and disease & Hereditary Neurological Disorders. The author has an h-index of 18, co-authored 32 publications.
ORCID: 0000-0001-8968-2447Papers by this author
worksHomozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
2019 · BMC Medical Genetics · 22 citations
https://doi.org/10.1186/s12881-019-0907-7
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel
2016 · BMC Medical Genetics · 16 citations
https://doi.org/10.1186/s12881-016-0343-x
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
2018 · BMC Medical Genetics · 9 citations
https://doi.org/10.1186/s12881-018-0532-x
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