JENNIFER POSEY to Membrane Proteins
This is a "connection" page, showing publications JENNIFER POSEY has written about Membrane Proteins.
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Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proc Natl Acad Sci U S A. 2024 Apr 30; 121(18):e2310283121.
Score: 0.133
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Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 07; 188(7):2153-2161.
Score: 0.115
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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058.
Score: 0.111
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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord. 2021 01; 82:84-86.
Score: 0.105
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.078
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.020