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sil1 in Homo sapiensMus musculusRattus norvegicusAll 601 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
Hereditary Ataxia Overview.
Perlman S. 1998 Oct 28 [Updated 2023 Nov 16].
Marinesco-Sjögren Syndrome.
Anttonen AK. 2006 Nov 29 [Updated 2019 Jan 10].
PNPLA6 Disorders.
Synofzik M, Hufnagel RB, Züchner S. 2014 Oct 9 [Updated 2021 Jun 10].
Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Finnish Population.
Wallace SE, Stephens K, Mirzaa GM, et al. 2018 Jun 14 [Updated 2023 May 4].
VLDLR Cerebellar Hypoplasia.
Boycott KM, MacDonald SK, Parboosingh JS. 2008 Aug 26 [Updated 2020 Feb 27].
CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy.
Kalaydjieva L, Chamova T. 2010 Mar 2 [Updated 2022 Oct 13].
RAB18 Deficiency.
Handley M, Sheridan E. 2018 Jan 4.
EPG5-Related Disorder.
Dafsari HS, Ebrahimi-Fakhari D, Saffari A, et al. 2022 Oct 13.
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