Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG3
Variant:p.L1383V
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CRYBG3

NM_153605.4:p.L1383V

Associated Papers

Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF.

Xu C et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

35232447 (PubMed )
Supplement: 12958_2022_916_MOESM3_ESM.xlsx › Sheet1

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."