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Links from PubMed
Items: 2
Variation
Location
Gene(s)
Protein change
Condition(s)
Clinical significance
(Last reviewed)
Review status
Select item 2704624
1.
NM_000530.8(MPZ):c.370A>T (p.Thr124Ser)
GRCh37:
Chr1:161276576
GRCh38:
Chr1:161306786
MPZ
T124S
Select item 14181
2.
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
GRCh37:
Chr1:161276575
GRCh38:
Chr1:161306785
MPZ
T124M