Varaico: Literature-Extracted Genetic Variants

Gene:ERICH2
Variant:p.L162R
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ERICH2

NM_001290030.2:p.L162R

Associated Papers

Loss-of-function variant in TDRD6 cause male infertility with severe oligo-astheno-teratozoospermia in human and mice.

Bi X et al.

Journal of Cellular and Molecular Medicine, 2024

39331689 (PubMed )
Supplement: JCMM-28-e18580-s001.docx

ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Seidel P et al.

Jci Insight, 2022

36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › 786O

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

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."