GENETIC ENCYCLOPEDIA
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disease: Cystathioninuria

id1212
nameCystathioninuria
variant-disease CTH, 2-BP DEL, 940CT AND Cystathioninuria
NM_001902.6(CTH):c.*522_*523insTAA AND Cystathioninuria
NM_153742.4(CTH):c.-151T>C AND Cystathioninuria
NM_001902.6(CTH):c.541G>A (p.Asp181Asn) AND Cystathioninuria
NM_001902.6(CTH):c.*592C>T AND Cystathioninuria
... 36 more