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Mutations on the Protein: Q5SW96 From Positions: 200 To 216

3
1
1
1


Swiss-Prot Disease: VAR_023320
p.SER202HIS
N/A
N/A
Hypercholesterolemia, autosomal recessive (ARH)


dbSNP Polymorphism: rs6687605
p.SER202PRO
N/A
N/A


OMIM Disease: 605747.0004
p.PRO202HIS
N/A
N/A
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE






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