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Q41356317-FD6CE0B3-0802-4A78-ACD0-68101022CD89
Q41356317-FD6CE0B3-0802-4A78-ACD0-68101022CD89
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41356317-FD6CE0B3-0802-4A78-ACD0-68101022CD89
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.
P2860
Q41356317-FD6CE0B3-0802-4A78-ACD0-68101022CD89
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41356317-FD6CE0B3-0802-4A78-ACD0-68101022CD89
rank
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type
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Statement
wasDerivedFrom
7f4c4f392432ecbe89adcb5c34f546d1b73db5c0
P2860
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy