GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive

id309
nameAnemia, sideroblastic, pyridoxine-refractory, autosomal recessive
variant-disease NM_017875.4(SLC25A38):c.277-1G>A AND Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
NM_017875.3(SLC25A38):c.324_325delCT (p.Tyr109Leufs) AND Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) AND Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) AND Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) AND Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
... 4 more