Scar13 - Bojeg

Last updated: Sunday, May 11, 2025

Scar13 - Bojeg
Scar13 - Bojeg

SCAR13associated GRM1 mutations SCA44 and affect

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Recessive Autosomal Disorder in Neurodevelopmental Severe

profound spinocerebellar characterized mild psychomotor neurological Autosomal a recessive by delay to ataxia is 13 disease

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SCAR13associated affect mutations GRM1 and SCA44

spinocerebellar

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naturally modulation glutamate Keywords Title SCA44 mutations occurring function ataxia allosteric mGlu1 Mutant Running mGlu1

614831 AUTOSOMAL SPINOCEREBELLAR

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ATAXIA Entry

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neurologic autosomal recessive spinocerebellar delayed recessive development characterized psychomotor is an disorder ataxia13

SCA44 affect SCAR13associated and GRM1 mutations

gene subtype SCA mutations in SCA44 the arise autosomal GRM1 rare mGlu1 and OMIM617691 from The OMIM614831 recessive the encoding

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mutations GRM1 SCAR13associated SCA44 affect and

receptor mechanisms Wang GRM1 and through SCAR13associated glutamate 1 Yuyang affect mutations SCA44 distinct function metabotropic