All individuals with variants in gene G6PC

14 entries on 1 page. Showing entries 1 - 14.
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00103995 Vogelaar-049A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00104004 Vogelaar-125A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00183458 Patient XX PubMed: Giugliano 2018 - M - Italy - - 0 - - MYOP onset adult, hyperCKemia, proximal muscle weakness, elevated CPK (7x), EMG normal, biopsy myopathic features 1 1 Teresa Giugliano
00245845 - - - F - United Kingdom (Great Britain) - - 0 - - GSD1B - 2 1 Shu Yau
00245846 - - - - - - - - 0 - - Healthy/Control - 4 1 LOVD
00245847 - - liver biopsy G6Pase activity undetectable - - United States - - 0 - - GSD1A - 2 1 LOVD
00245848 - - - - - United States - - 0 - - GSD1A - 2 1 LOVD
00291712 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291713 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291714 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 15 Mohammed Faruq
00329073 P1 PubMed: Wang 2013 - M - United States - - 0 - - GSD see paper; ..., hypoglycemia, hepatosplenomegaly 1 1 LOVD
00329074 P2 PubMed: Wang 2013 - M - United States - - 0 - - GSD see paper; ..., hypoglycemia, mild hepatosplenomegaly 2 1 LOVD
00329089 P22 PubMed: Wang 2013 - M - United States - - 0 - - GSD see paper; ..., GSD Ia, hypoglycemia, lactic acidosis, hepatomegaly 1 1 LOVD
00395953 patient PubMed: Razaq 2021 - M no United States Middle East;Hispanic - 0 - - BMD/DMD, WEST 4m-epileptic spasms, no head control; 5m-EEG hypsarrhythmia; 9m-severe developmental delay; MRI brain cortical atrophy; 18m-raised CK 25,000, 20m- 1 1 Johan den Dunnen
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