Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.L413V
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BBS12

NM_152618.3:p.L413V

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

Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.

Sun LW et al.

Investigative Ophthalmology & Visual Science, 2016

27145477 (PubMed )
Supplement: i1552-5783-57-6-2428-s01.pdf
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