GENETIC ENCYCLOPEDIA
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disease: Bare lymphocyte syndrome 2

id486
nameBare lymphocyte syndrome 2
variant-disease NM_000538.3(RFXAP):c.756A>G (p.Gln252=) AND Bare lymphocyte syndrome 2
NM_000538.3(RFXAP):c.*1826del AND Bare lymphocyte syndrome 2
NM_000449.3(RFX5):c.1495C>T (p.Pro499Ser) AND Bare lymphocyte syndrome 2
NM_000246.3(CIITA):c.773-11C>T AND Bare lymphocyte syndrome 2
NM_000246.3(CIITA):c.*709G>T AND Bare lymphocyte syndrome 2
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