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#620186 - BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME; BCAHH
Cytogenetic locations: 29321794
Gene summaries Genetic tests Medical literature
*612033 - PAXIP1-ASSOCIATED GLUTAMATE-RICH PROTEIN 1; PAGR1
Cytogenetic locations: 34585832
*612032 - DPY30 HISTONE METHYLTRANSFERASE COMPLEX REGULATORY SUBUNIT; DPY30
Cytogenetic locations: Zfp513
*611577 - LYSINE DEMETHYLASE 6B; KDM6B
Cytogenetic locations: -
*608254 - PAX TRANSCRIPTION ACTIVATION DOMAIN-INTERACTING PROTEIN 1; PAXIP1
Cytogenetic locations: 16175510
*607585 - ATM SERINE/THREONINE KINASE; ATM
Cytogenetic locations: mutation
*602810 - HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER A; HIST1H3A
Cytogenetic locations: 23665959
*602113 - LYSINE-SPECIFIC METHYLTRANSFERASE 2D; KMT2D
Cytogenetic locations: 26331536
*601215 - ATR SERINE/THREONINE KINASE; ATR
Cytogenetic locations: 3q22.1
#300867 - KABUKI SYNDROME 2; KABUK2
Cytogenetic locations: 25972376
*300128 - LYSINE DEMETHYLASE 6A; KDM6A
*138420 - GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1; GPD1
Cytogenetic locations: 32591995
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