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Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor.

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Title: Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor.
Authors: Canbek, Sezin1 (AUTHOR) sezin.canbek@ogr.iu.edu.tr, Şenol, Mehmet Guney2 (AUTHOR)
Source: Journal of Neurosciences in Rural Practice. Oct-Dec2024, Vol. 15 Issue 4, p1-6. 6p.
Database: Academic Search Ultimate
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  Data: Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor.
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  Data: <searchLink fieldCode="AR" term="%22Canbek%2C+Sezin%22">Canbek, Sezin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> sezin.canbek@ogr.iu.edu.tr</i><br /><searchLink fieldCode="AR" term="%22Şenol%2C+Mehmet+Guney%22">Şenol, Mehmet Guney</searchLink><relatesTo>2</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Neurosciences+in+Rural+Practice%22">Journal of Neurosciences in Rural Practice</searchLink>. Oct-Dec2024, Vol. 15 Issue 4, p1-6. 6p.
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      – Type: doi
        Value: 10.25259/JNRP_24_2024
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      – Code: eng
        Text: English
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        PageCount: 6
        StartPage: 1
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      – TitleFull: Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor.
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            NameFull: Canbek, Sezin
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            NameFull: Şenol, Mehmet Guney
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            – D: 01
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              Text: Oct-Dec2024
              Type: published
              Y: 2024
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              Value: 15
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              Value: 4
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            – TitleFull: Journal of Neurosciences in Rural Practice
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