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*190182 - TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2
Cytogenetic locations: 11309634
Gene summaries Genetic tests Medical literature
#619656 - LOEYS-DIETZ SYNDROME 6; LDS6
Cytogenetic locations: 600042
#618005 - CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; CDGF1
Cytogenetic locations: mutation
#617168 - AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10
Cytogenetic locations: Glaucoma
#616914 - MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME; MFLS
Cytogenetic locations: 24039054
*615587 - NUCLEOPORIN, 188-KD; NUP188
Cytogenetic locations: 614444
#615582 - LOEYS-DIETZ SYNDROME 5; LDS5
Cytogenetic locations: 154950
*615130 - UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 11; GALNT11
Cytogenetic locations: 11925450
#614816 - LOEYS-DIETZ SYNDROME 4; LDS4
Cytogenetic locations: 22772368
*614708 - SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 3; SCUBE3
Cytogenetic locations: 21441952
#614437 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
Cytogenetic locations: 20389311
#614331 - COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6
Cytogenetic locations: #7761852
*614041 - RB TRANSCRIPTIONAL COREPRESSOR 1; RB1
Cytogenetic locations: 14991054
#613795 - LOEYS-DIETZ SYNDROME 3; LDS3
Cytogenetic locations: 22167769
612445 - SCOLIOSIS, ARACHNODACTYLY, AND BLINDNESS
#612219 - EWING SARCOMA; ES
NEUROEPITHELIOMA, PERIPHERAL, INCLUDED; PNE, INCLUDED
Cytogenetic locations: 12303258
*612188 - VPS39 SUBUNIT OF HOPS COMPLEX; VPS39
Cytogenetic locations: 19872452
#611788 - AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
Cytogenetic locations: 24243736
*611731 - APC REGULATOR OF WNT SIGNALING PATHWAY; APC
Cytogenetic locations: 20348907
*611713 - DYNEIN, LIGHT CHAIN, TCTEX-TYPE 4; DYNLT4
Cytogenetic locations: 16982625
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