Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.G129S
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PKHD1L1

NM_177531.6:p.G129S

Associated Papers

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.

Redfield SE et al.

Human Genetics, 2024

PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.

Redfield SE et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."