Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.C91fs
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MKKS

NM_170784.3:p.C91fs

Associated Papers

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Nasser F et al.

Genes, 2022

35886001 (PubMed )
Supplement: genes-13-01218-s001.zip › Supplementary_Tables_S1-S3.pdf

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Mary L et al.

Clinical Genetics, 2019

Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).

Álvarez-Satta M et al.

Frontiers in Molecular Biosciences, 2017

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