Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
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ABSTRACT:
SUBMITTER: Saad AK
PROVIDER: S-EPMC7586085 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Publications
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Saad Ahmed K AK Marafi Dana D Mitani Tadahiro T Jolly Angad A Du Haowei H Elbendary Hasnaa M HM Jhangiani Shalini N SN Akdemir Zeynep C ZC Gibbs Richard A RA Hunter Jill V JV Carvalho Claudia M B C CMBC Pehlivan Davut D Posey Jennifer E JE Zaki Maha S MS Lupski James R JR
Brain : a journal of neurology 20201001 10
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