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Q41847680-EE509E7A-15D1-4D34-99B5-B3761593A0A5
Q41847680-EE509E7A-15D1-4D34-99B5-B3761593A0A5
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Statement
http://www.wikidata.org/entity/statement/Q41847680-EE509E7A-15D1-4D34-99B5-B3761593A0A5
Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.
P2860
Q41847680-EE509E7A-15D1-4D34-99B5-B3761593A0A5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41847680-EE509E7A-15D1-4D34-99B5-B3761593A0A5
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wasDerivedFrom
abacafc84fcf880ba6c7977539541446eb64be77
P2860
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1