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Q36523857-0E15CE18-5024-487A-9A2B-C1FFDBA47348
Q36523857-0E15CE18-5024-487A-9A2B-C1FFDBA47348
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36523857-0E15CE18-5024-487A-9A2B-C1FFDBA47348
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
P2860
Q36523857-0E15CE18-5024-487A-9A2B-C1FFDBA47348
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36523857-0E15CE18-5024-487A-9A2B-C1FFDBA47348
rank
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type
BestRank
Statement
wasDerivedFrom
41e02d0a0b4ecfe6429c9b875f07c8d033a491a0
P2860
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability