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A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.

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Title: A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.
Authors: Klangjorhor, Jeerawan1,2,3 (AUTHOR), Wiwattanadittakul, Natrujee2,4 (AUTHOR), Jaimalai, Thanapak1,3 (AUTHOR), Thongkumkoon, Patcharawadee1,4 (AUTHOR), Noisagul, Pitiporn1 (AUTHOR), Khiaomai, Ratchadaporn1,2 (AUTHOR), Sirikaew, Nutnicha1,3 (AUTHOR), Moonsan, Nonthanan4 (AUTHOR), Pasena, Arnat1 (AUTHOR), Suksakit, Pathacha1 (AUTHOR), Teeyakasem, Pimpisa3 (AUTHOR), Chaiyawat, Parunya1,3 (AUTHOR), Tengsujaritkul, Maliwan4 (AUTHOR)
Source: International Journal of Molecular Sciences. Mar2025, Vol. 26 Issue 6, p2790. 16p.
Database: Academic Search Ultimate
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  Data: A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Molecular+Sciences%22">International Journal of Molecular Sciences</searchLink>. Mar2025, Vol. 26 Issue 6, p2790. 16p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=184101561
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        Value: 10.3390/ijms26062790
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      – Code: eng
        Text: English
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        PageCount: 16
        StartPage: 2790
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      – TitleFull: A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.
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              Text: Mar2025
              Type: published
              Y: 2025
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