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GeneDx also performs oligonucleotide-based microarray testing for the detection of chromosomal abnormalities (genomic losses or gains) in individuals with chromosomal anomalies. GeneDx provides testing for autism spectrum disorders, various forms of cardiomyopathy, inherited eye, skin, muscle, hearing, metabolic, neurologic, and mitochondrial ...
GeneDx Holdings (NASDAQ:WGS) stock is trading higher on Tuesday. The genetic testing company reported a third-quarter EPS loss of $(0.31), compared to $(1.64) reported a year ago, beating the ...
8929 18935 Ensembl ENSG00000109132 ENSMUSG00000012520 UniProt Q99453 O35690 RefSeq (mRNA) NM_003924 NM_008888 RefSeq (protein) NP_003915 NP_032914 Location (UCSC) Chr 4: 41.74 – 41.75 Mb Chr 5: 67.25 – 67.26 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the ...
6598 20587 Ensembl ENSG00000099956 ENSG00000275837 ENSMUSG00000000902 UniProt Q12824 Q9Z0H3 RefSeq (mRNA) NM_001007468 NM_003073 NM_001317946 NM_001362877 NM_001161853 NM_011418 RefSeq (protein) NP_001007469 NP_001304875 NP_003064 NP_001349806 NP_001155325 NP_035548 Location (UCSC) Chr 22: 23.79 – 23.84 Mb Chr 10: 75.73 – 75.76 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse SWI ...
7148 81877 Ensembl ENSG00000236236 ENSG00000236221 ENSG00000229353 ENSG00000229341 ENSG00000233323 ENSG00000231608 ENSG00000206258 ENSG00000168477 ENSMUSG00000033327 UniProt P22105 n/a RefSeq (mRNA) NM_032470 NM_019105 NM_001365276 NM_031176 RefSeq (protein) NP_061978 NP_115859 NP_001352205 n/a Location (UCSC) Chr 6: 32.04 – 32.12 Mb Chr 17: 34.88 – 34.94 Mb PubMed search Wikidata View ...
216439 Ensembl ENSG00000135439 ENSMUSG00000025422 UniProt Q99490 Q3UHD9 RefSeq (mRNA) NM_001122772 NM_014770 NM_001033263 NM_001301014 RefSeq (protein) NP_001116244 NP_055585 NP_001028435 NP_001287943 Location (UCSC) Chr 12: 57.72 – 57.74 Mb Chr 10: 126.91 – 126.93 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 ...
CDKL5 deficiency disorder; Symptoms: Refractory epilepsy, Hypotonia, developmental, intellectual, and motor disabilities with little or no speech, and cortical visual impairment
51151 22293 Ensembl ENSG00000281919 ENSG00000164175 ENSMUSG00000022243 UniProt Q9UMX9 P58355 RefSeq (mRNA) NM_001012509 NM_001297417 NM_016180 NM_053077 RefSeq (protein) NP_001012527 NP_001284346 NP_057264 NP_444307 Location (UCSC) Chr 5: 33.94 – 33.98 Mb Chr 15: 11 – 11.03 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Membrane-associated transporter protein (MATP), also known ...