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gc in Homo sapiensMus musculusRattus norvegicusAll 459 Gene records
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
GeneReviews by Title GeneReviews Advanced Search Help
Squalene Synthase Deficiency.
Coman D, Vissers L, Waterham H, et al. 2020 Feb 6.
Cytochrome P450 Oxidoreductase Deficiency.
Idkowiak J, Cragun D, Hopkin RJ, et al. 2005 Sep 8 [Updated 2017 Aug 3].
Malignant Hyperthermia Susceptibility.
Rosenberg H, Sambuughin N, Riazi S, et al. 2003 Dec 19 [Updated 2020 Jan 16].
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2022 Sep 8].
Smith-Lemli-Opitz Syndrome.
Nowaczyk MJM, Wassif CA. 1998 Nov 13 [Updated 2020 Jan 30].
CEBPA-Associated Familial Acute Myeloid Leukemia (AML).
Tawana K, Fitzgibbon J. 2010 Oct 21 [Updated 2021 Feb 18].
Cerebrotendinous Xanthomatosis.
Federico A, Gallus GN. 2003 Jul 16 [Updated 2022 Mar 17].
Spastic Paraplegia 7.
Casari G, Marconi R. 2006 Aug 24 [Updated 2018 Oct 25].
Spondylocostal Dysostosis, Autosomal Recessive.
Turnpenny PD, Sloman M, Dunwoodie S. 2009 Aug 25 [Updated 2023 Aug 17].
Optic Atrophy Type 1.
Delettre-Cribaillet C, Hamel CP, Lenaers G. 2007 Jul 13 [Updated 2015 Nov 12].
Dopamine Beta-Hydroxylase Deficiency.
Garland EM, Biaggioni I. 2003 Sep 4 [Updated 2019 Apr 25].
Juvenile Polyposis Syndrome.
Larsen Haidle J, MacFarland SP, Howe JR. 2003 May 13 [Updated 2022 Feb 3].
HRAS-Related Costello Syndrome.
Gripp KW, Weaver KN. 2006 Aug 29 [Updated 2023 Dec 21].
PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia.
Brock S, Dobyns WB, Jansen A. 2009 Mar 3 [Updated 2021 Mar 25].
Megalencephalic Leukoencephalopathy with Subcortical Cysts.
Min R, Abbink TEM, van der Knaap MS. 2003 Aug 11 [Updated 2023 Jul 27].
FLNA Deficiency.
Chen MH, Walsh CA. 2002 Oct 8 [Updated 2021 Sep 30].
SOX2 Disorder.
Williamson KA, Yates TM, FitzPatrick DR. 2006 Feb 23 [Updated 2020 Jul 30].
Creatine Deficiency Disorders.
Mercimek-Andrews S, Salomons GS. 2009 Jan 15 [Updated 2022 Feb 10].
Achromatopsia.
Kohl S, Jägle H, Wissinger B, et al. 2004 Jun 24 [Updated 2018 Sep 20].
Hemophilia B.
Konkle BA, Nakaya Fletcher S. 2000 Oct 2 [Updated 2023 Feb 9].
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