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4717826
4717826
https://w3id.org/oc/corpus/br/4717826
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients
P3181
776fd3649a5993f1d3d0077273ecfe39dcc177ae
P3181
Q24678854-C73E330F-D335-43FC-9E4F-C8F45249A55D
P3181
4717826
https://w3id.org/oc/corpus/br/4717826