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Paper Report for: Miyake_2021_Clin.Genet__

Reference

Title: A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A and Matsumoto N <1 more author(s)>
Ref: Clin Genet, :, 2021 : PubMed

        



Related information

Gene_Locus| human-ABHD16A
Mutation | Q279X_human-ABHD16A,



Citations formats

Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A, Uchiyama Y, Matsumoto N (2021)
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
Clin Genet

Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A, Uchiyama Y, Matsumoto N (2021)
Clin Genet



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