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Displaying 20 of 208,560 results for " "
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Sorted By:
Title type Taxonomic Information Alternate Identifiers
NM_000229.1(LCAT):c.440C>T (p.Thr147Ile) AND Fish-eye disease Variation human SCV000024010
NM_000375.2(UROS):c.10C>T (p.Leu4Phe) AND Congenital erythropoietic porphyria Variation human SCV000024118
NM_000155.3(GALT):c.580T>C (p.Phe194Leu) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase N/A N/A N/A
NM_000155.3(GALT):c.130G>A (p.Val44Met) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase N/A N/A N/A
MPO, -463G-A AND Alzheimer disease, susceptibility to Variation human SCV000023982
TRPM6, 1-BP DEL, 2207G AND Hypomagnesemia 1, intestinal Variation human SCV000023927
COG1, IVS6DS, G-A, +5 AND Congenital disorder of glycosylation type 2G Variation human SCV000024005
NM_000375.2(UROS):c.-26-197C>A AND Congenital erythropoietic porphyria Variation human SCV000024128
NM_000250.1(MPO):c.2031-2A>C AND Myeloperoxidase deficiency N/A human N/A
NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) AND Oculocutaneous albinism type 1B Variation human SCV000024141
NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) AND Tyrosinase-negative oculocutaneous albinism N/A N/A N/A
NM_000229.1(LCAT):c.475C>T (p.Arg159Trp) AND Norum disease Variation human SCV000024018
COG4, 400-KB DEL AND Congenital disorder of glycosylation type 2J Variation human SCV000024003
NM_000375.2(UROS):c.243A>T (p.Glu81Asp) AND Congenital erythropoietic porphyria Variation human SCV000024123
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) AND Skin/hair/eye pigmentation 3, blue/green eyes Variation human SCV000024148
NM_000062.2(SERPING1):c.1372G>A (p.Ala458Thr) AND Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Variation human SCV000024317
GALC, 30-KB DEL, IVS10 AND Galactosylceramide beta-galactosidase deficiency Variation human SCV000024189
NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs) AND Tyrosinase-negative oculocutaneous albinism N/A N/A N/A
NM_006623.3(PHGDH):c.1129G>A (p.Gly377Ser) AND Phosphoglycerate dehydrogenase deficiency Variation human SCV000024241
NM_000372.4(TYR):c.1112A>C (p.Asn371Thr) AND Tyrosinase-negative oculocutaneous albinism Variation human SCV000024168