protein Shroom4 isoform X6 [Homo sapiens]

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Are SHROOM4 loss-of-function variants pathogenic? [Am J Med Genet A. 2022]
Are SHROOM4 loss-of-function variants pathogenic?
Peduto C, Piluso G, Nigro V, Brunetti-Pierri N. Am J Med Genet A. 2022 Nov; 188(11):3374-3375. Epub 2022 Aug 16.
Epilepsy and intellectual disability linked protein Shrm4 interaction with GABA(B)Rs shapes inhibitory neurotransmission. [Nat Commun. 2017]
Epilepsy and intellectual disability linked protein Shrm4 interaction with GABA(B)Rs shapes inhibitory neurotransmission.
Zapata J, Moretto E, Hannan S, Murru L, Longatti A, Mazza D, Benedetti L, Fossati M, Heise C, Ponzoni L, et al. Nat Commun. 2017 Mar 6; 8:14536. Epub 2017 Mar 6.
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. [Am J Med Genet A. 2003]
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.
Stocco dos Santos RC, Castro NH, Lillia Holmes A, Beçak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE. Am J Med Genet A. 2003 Apr 30; 118A(3):255-9.

RefSeq genomic sequence
See the genomic reference sequence for the SHROOM4 gene (NG_011882.2).
RefSeq mRNA
See reference mRNA sequence for the SHROOM4 gene (XM_017029687.3).

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Protein