Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

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Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

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2017 nî lūn-bûn

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2017年学术文章

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2017年学术文章

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Homozygous mutation in PTRH2 g ...... ess and peripheral neuropathy.

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Homozygous mutation in PTRH2 g ...... ess and peripheral neuropathy.

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Homozygous mutation in PTRH2 g ...... ess and peripheral neuropathy.

@en

Homozygous mutation in PTRH2 g ...... ess and peripheral neuropathy.

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Homozygous mutation in PTRH2 g ...... ess and peripheral neuropathy.

@en

Homozygous mutation in PTRH2 g ...... ess and peripheral neuropathy.

@nl

P1476

Homozygous mutation in PTRH2 g ...... ness and peripheral neuropathy

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P2093

Abdussalam Azem

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Jill E Urquhart

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Milit Marom-David

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Muhammad Mahajnah

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Nathan Watemberg

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Orly Elpeleg

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Rajech Sharkia

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Ronen Spiegel

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Sanjeev S Bhaskar

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Sarah B Daly

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P2860

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A mitochondrial protein, Bit1, mediates apoptosis regulated by integrins and Groucho/TLE corepressors

Yeast Pth2 is a UBL domain-binding protein that participates in the ubiquitin-proteasome pathway.

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.

The anoikis effector Bit1 displays tumor suppressive function in lung cancer cells.

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.

Bit-1 is an essential regulator of myogenic differentiation.

Anoikis effector Bit1 negatively regulates Erk activity.

Structural and functional insights into peptidyl-tRNA hydrolase.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

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1051-1055

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scholarly article

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10.1002/AJMG.A.38140

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P407

English

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173

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William G. Newman

Simon G Williams

Abdelnaser Zalan

P577

2017-04-01T00:00:00Z

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28328138

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